ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4533+6C>A

gnomAD frequency: 0.00001  dbSNP: rs1311909722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692865 SCV000820711 likely benign Rhabdoid tumor predisposition syndrome 2 2023-09-19 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001824866 SCV002075230 not provided Coffin-Siris syndrome; Small cell carcinoma of the ovary, hypercalcemic type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-26-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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