ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.94C>G (p.Leu32Val) (rs387907304)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000030817 SCV000266525 pathogenic Shprintzen-Goldberg syndrome criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000030817 SCV000966209 pathogenic Shprintzen-Goldberg syndrome 2018-08-16 criteria provided, single submitter clinical testing
OMIM RCV000030817 SCV000053492 pathogenic Shprintzen-Goldberg syndrome 2015-02-01 no assertion criteria provided literature only

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