ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.860-4C>T

dbSNP: rs1555754744
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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 RCV000565455 SCV000672234 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-13 criteria provided, single submitter clinical testing The c.860-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 5 in the SMARCA4 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002060502 SCV002348541 likely benign Rhabdoid tumor predisposition syndrome 2 2023-11-13 criteria provided, single submitter clinical testing

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