ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2286C>T (p.Tyr762=)

gnomAD frequency: 0.00017  dbSNP: rs555242193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517792 SCV000614570 benign not specified 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV003746533 SCV004559958 benign Autosomal dominant polycystic kidney disease 2023-02-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983101 SCV004797986 likely benign PKD2-related disorder 2023-11-29 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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