ClinVar Miner

Submissions for variant NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter)

dbSNP: rs1877432240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001255371 SCV001431701 pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.172C>T, p.(Gln58*) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was M.The variant likely explains the NDD in this individual.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262728 SCV001440703 uncertain significance Coffin-Siris syndrome 8 2019-01-01 criteria provided, single submitter clinical testing

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