ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)

gnomAD frequency: 0.00001  dbSNP: rs371898195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501803 SCV000592872 uncertain significance not specified 2016-07-29 criteria provided, single submitter clinical testing
Invitae RCV000868775 SCV001010145 likely benign Autosomal dominant polycystic kidney disease 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915359 SCV004739968 likely benign PKD2-related condition 2024-02-16 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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