ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.355+4C>T

dbSNP: rs1276835884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563068 SCV000672085 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-24 criteria provided, single submitter clinical testing The c.355+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 2 in the SMARCA4 gene. This variant has been detected in multiple individuals with no reported features of Coffin-Siris syndrome (Ambry internal data). This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the supporting evidence, the association of this alteration with rhabdoid tumor predisposition syndrome is unknown; however, the association of this alteration with Coffin-Siris syndrome is unlikely.
Labcorp Genetics (formerly Invitae), Labcorp RCV000808515 SCV000948625 likely benign Rhabdoid tumor predisposition syndrome 2 2023-10-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809616 SCV002056301 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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