ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)

dbSNP: rs387906857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193407 SCV000248980 likely pathogenic Familial meningioma 2014-12-26 criteria provided, single submitter clinical testing
OMIM RCV000023251 SCV000044542 pathogenic Coffin-Siris syndrome 5 2012-03-18 no assertion criteria provided literature only

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