ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=)

dbSNP: rs372534935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756503 SCV000884334 likely benign not provided 2017-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918237 SCV004733715 likely benign PKD1-related disorder 2019-04-18 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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