ClinVar Miner

Submissions for variant NM_001042750.2(STAG2):c.476A>G (p.Tyr159Cys)

dbSNP: rs1569511477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680247 SCV000747058 likely pathogenic STAG2-related disorder 2018-03-08 criteria provided, single submitter clinical testing
OMIM RCV000761369 SCV000891361 pathogenic Mullegama-Klein-Martinez syndrome 2019-10-23 no assertion criteria provided literature only

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