ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3547-5C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002454828 SCV002617302 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-09 criteria provided, single submitter clinical testing The c.3547-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 25 in the SMARCA4 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775659 SCV004677890 likely benign Rhabdoid tumor predisposition syndrome 2 2023-02-14 criteria provided, single submitter clinical testing

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