ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)

dbSNP: rs573293029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873548 SCV001015559 benign Autosomal recessive polycystic kidney disease 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507525 SCV002795632 benign Polycystic kidney disease 4 2022-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975456 SCV004788849 likely benign PKHD1-related condition 2021-08-25 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).
Natera, Inc. RCV000873548 SCV001463518 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-08 no assertion criteria provided clinical testing

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