ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3043C>T (p.Leu1015=)

dbSNP: rs1272367929
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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 RCV001418985 SCV001621230 likely benign Autosomal recessive polycystic kidney disease 2023-07-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001418985 SCV002081006 likely benign Autosomal recessive polycystic kidney disease 2021-07-14 no assertion criteria provided clinical testing

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