ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser)

dbSNP: rs1848883206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267958 SCV001446489 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneReviews RCV001553783 SCV001774783 not provided IMAGe syndrome no assertion provided literature only Associated with Silver-Russell syndrome

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