ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)

dbSNP: rs1057518862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415391 SCV000492766 likely benign Global developmental delay; Single transverse palmar crease; Facial asymmetry; Strabismus; Ventricular septal defect 2015-01-23 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195860 SCV001366281 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-10-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BS2.
Genome-Nilou Lab RCV001808791 SCV002056161 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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