ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=)

gnomAD frequency: 0.00001  dbSNP: rs1355951747
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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 RCV001480392 SCV001684708 likely benign Autosomal recessive polycystic kidney disease 2023-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501656 SCV002802542 likely benign Polycystic kidney disease 4 2022-04-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956061 SCV004767428 likely benign PKHD1-related disorder 2022-04-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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