ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1254C>T (p.Ser418=)

gnomAD frequency: 0.00003  dbSNP: rs1252381398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409156 SCV001611170 likely benign Autosomal recessive polycystic kidney disease 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499878 SCV002803487 likely benign Polycystic kidney disease 4 2021-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001409156 SCV002081086 likely benign Autosomal recessive polycystic kidney disease 2018-01-18 no assertion criteria provided clinical testing

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