ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.101G>A (p.Gly34Asp)

dbSNP: rs387907305
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Total submissions: 2
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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 School of Medicine RCV000030818 SCV000266523 pathogenic Shprintzen-Goldberg syndrome criteria provided, single submitter research
OMIM RCV000030818 SCV000053493 pathogenic Shprintzen-Goldberg syndrome 2015-02-01 no assertion criteria provided literature only

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