ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11507-7G>A

dbSNP: rs373438297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665010 SCV000789063 uncertain significance Autosomal recessive polycystic kidney disease 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665010 SCV001005309 benign Autosomal recessive polycystic kidney disease 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665010 SCV001453249 likely benign Autosomal recessive polycystic kidney disease 2020-05-01 no assertion criteria provided clinical testing

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