ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val)

dbSNP: rs387907223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000029183 SCV000051828 pathogenic IMAGe syndrome 2012-05-27 no assertion criteria provided literature only
GeneReviews RCV000029183 SCV000153717 not provided IMAGe syndrome no assertion provided literature only Associated with IMAGe syndrome

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