ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.720G>A (p.Pro240=)

gnomAD frequency: 0.00002  dbSNP: rs1023059961
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546473 SCV000648164 likely benign Rhabdoid tumor predisposition syndrome 2 2024-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572455 SCV000672104 likely benign Hereditary cancer-predisposing syndrome 2016-04-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001809548 SCV002058006 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572455 SCV002535226 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-12 criteria provided, single submitter curation

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