ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys)

gnomAD frequency: 0.00023  dbSNP: rs145906459
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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 RCV001288288 SCV001475278 uncertain significance not provided 2019-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001288288 SCV004700133 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing PKD1: PM2, BP4
PreventionGenetics, part of Exact Sciences RCV003918827 SCV004735634 likely benign PKD1-related disorder 2022-05-20 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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