ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)

dbSNP: rs749666891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174840 SCV000226217 uncertain significance not provided 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV002056924 SCV002436467 likely benign Autosomal dominant polycystic kidney disease 2023-07-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975278 SCV004799223 likely benign PKD2-related disorder 2023-08-30 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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