Variant ID: {{sysVariantId}}

Gene: {{SysMaster.gene}} {{SysMaster.gene}}

Inheritance: {{ barInheritance }}

cHGVS: {{syshgvsC}}

pHGVS: {{SysMaster.hgvsP}} ({{buttonOtherEvidence.hgvsP1}})

pHGVS: {{SysMaster.hgvsP}}

Manual

{{verdict}}

{{evidences}}

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5
BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP3 BP4 BP5 BP6 BP7
PMID:  {{ item.pmid }} More Not available
Variant detail(s)
ClinVar interpretation
OMIM gene-phenotype relationship(s)
Related reference(s) 
BA1
BS1
BS2
PM2
 Exomes Genomes
PVS1
go AutoPVS1
PM1
PP3
BP4
PM4
BP3
BP7
PS1

Note:  {{ item.hgvs }} /is submitted as "Pathogenic/Likely pathogenic" in VIP-HL.
PM5

Note:  {{ item.hgvs }} /is submitted as "Pathogenic/Likely pathogenic" in VIP-HL.
PM3
BP2
PS2/PM6
PP4
BP5
PP1
BS4
PS4
PS3
BS3
Submitted interpretation(s)