ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) (rs797044902)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190727 SCV000244168 likely pathogenic Inborn genetic diseases 2014-10-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000681734 SCV001145008 likely pathogenic not provided 2019-04-24 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/275338 chr). Statistically enriched in patients compared to ethnically matched controls. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Located in potentially critical domain of the protein.
Gharavi Laboratory,Columbia University RCV000681734 SCV000809189 pathogenic not provided 2018-09-16 no assertion criteria provided research

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