ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=)

dbSNP: rs137925439
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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 RCV000874368 SCV001016534 likely benign Autosomal recessive polycystic kidney disease 2024-03-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000874368 SCV001459378 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-17 no assertion criteria provided clinical testing

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