ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5958C>T (p.His1986=)

gnomAD frequency: 0.00004  dbSNP: rs745388926
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001449146 SCV001652252 likely benign Autosomal recessive polycystic kidney disease 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501575 SCV002808920 likely benign Polycystic kidney disease 4 2022-04-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311992 SCV004011674 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing PKHD1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003900544 SCV004713350 likely benign PKHD1-related disorder 2023-09-25 criteria provided, single submitter 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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