ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3775-4A>G

dbSNP: rs926233307
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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 RCV000574217 SCV000664298 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-13 criteria provided, single submitter clinical testing The c.3775-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 26 in the SMARCA4 gene. This nucleotide position is highly 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 RCV000646957 SCV000768742 likely benign Rhabdoid tumor predisposition syndrome 2 2021-12-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809608 SCV002056209 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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