ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.528-9del

dbSNP: rs753686281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516478 SCV001724763 benign Autosomal recessive polycystic kidney disease 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506616 SCV002813011 likely benign Polycystic kidney disease 4 2022-03-16 criteria provided, single submitter clinical testing

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