ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.101G>T (p.Gly34Val)

dbSNP: rs387907305
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000033005 SCV001520312 pathogenic Shprintzen-Goldberg syndrome 2019-11-15 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
DECIPHERD-UDD, Universidad del Desarrollo RCV000033005 SCV004171004 pathogenic Shprintzen-Goldberg syndrome 2023-07-01 criteria provided, single submitter research
OMIM RCV000033005 SCV000056784 pathogenic Shprintzen-Goldberg syndrome 2015-02-01 no assertion criteria provided literature only
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000033005 SCV001427381 pathogenic Shprintzen-Goldberg syndrome 2019-01-01 no assertion criteria provided clinical testing

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