ClinVar Miner

Submissions for variant NM_000296.3(PKD1):c.7546C>T (p.Arg2516Cys) (rs797044902)

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Total submissions: 2
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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 Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Gharavi Laboratory,Columbia University RCV000681734 SCV000809189 pathogenic not provided 2018-09-16 no assertion criteria provided research

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