ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=)

gnomAD frequency: 0.00001  dbSNP: rs757125119
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474796 SCV001678972 likely benign Autosomal recessive polycystic kidney disease 2023-09-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501638 SCV002807169 likely benign Polycystic kidney disease 4 2021-08-23 criteria provided, single submitter clinical testing

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