ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11525G>A (p.Arg3842Gln)

dbSNP: rs76572975
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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 RCV001440742 SCV001643654 likely benign Autosomal recessive polycystic kidney disease 2024-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005038223 SCV005670483 likely benign Polycystic kidney disease 4 2024-05-21 criteria provided, single submitter clinical testing

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