ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile)

dbSNP: rs281875191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679901 SCV000807327 uncertain significance Nicolaides-Baraitser syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old female with global delays with regression, autism, epilepsy, dymorphisms, short stature, joint laxity, scoliosis, hypohydrosis, thin hair, significant myopia
Baylor Genetics RCV001533098 SCV001748918 uncertain significance SMARCA2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059658 SCV000091228 not provided not provided no assertion provided not provided

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