ClinVar Miner

Submissions for variant NM_000076.2(CDKN1C):c.827T>C (p.Phe276Ser) (rs387907224)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000029184 SCV000153718 pathogenic Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 2014-03-13 no assertion criteria provided literature only
OMIM RCV000029184 SCV000051829 pathogenic Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 2012-05-27 no assertion criteria provided literature only

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