ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=)

gnomAD frequency: 0.00008  dbSNP: rs770480368
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 RCV002114184 SCV002432723 likely benign not provided 2022-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494386 SCV002795256 likely benign Polycystic liver disease 1 2022-03-08 criteria provided, single submitter clinical testing

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