ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del)

dbSNP: rs398122889
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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 RCV000030821 SCV000266526 pathogenic Shprintzen-Goldberg syndrome criteria provided, single submitter research
OMIM RCV000030821 SCV000053496 pathogenic Shprintzen-Goldberg syndrome 2012-11-01 no assertion criteria provided literature only

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