ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.836+4A>G

gnomAD frequency: 0.00007  dbSNP: rs201004985
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885626 SCV001029088 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012391 SCV005635557 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 2 2024-06-11 criteria provided, single submitter clinical testing

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