ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)

dbSNP: rs281875189
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000059680 SCV000329680 pathogenic not provided 2021-10-12 criteria provided, single submitter clinical testing In silico analysis supports that this variant has a deleterious effect on splicing; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22366787, 25169058, 24090879, 30459321)
Diagnostic Laboratory, Strasbourg University Hospital RCV001260811 SCV001437906 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
OMIM RCV000022917 SCV000044208 pathogenic Nicolaides-Baraitser syndrome 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059680 SCV000091250 not provided not provided no assertion provided not provided
Autoinflammatory diseases unit, CHU de Montpellier RCV001261297 SCV001438106 likely pathogenic Hirsutism; Intellectual disability 2019-09-26 no assertion criteria provided clinical testing

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