ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)

dbSNP: rs536715802
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598255 SCV000706302 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000868210 SCV001009513 benign Autosomal recessive polycystic kidney disease 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483622 SCV002800522 likely benign Polycystic kidney disease 4 2021-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868210 SCV002081010 likely benign Autosomal recessive polycystic kidney disease 2017-10-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945411 SCV004761532 likely benign PKHD1-related disorder 2021-07-12 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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