ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) (rs786205862)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000171558 SCV000485941 likely pathogenic Glutaric aciduria, type 1 2016-03-02 criteria provided, single submitter clinical testing
National Institute of Mental Health and Neurosciences RCV000171558 SCV000223743 pathogenic Glutaric aciduria, type 1 2015-12-08 no assertion criteria provided research

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