ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3993C>T (p.Pro1331=)

dbSNP: rs747916992
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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 RCV000560462 SCV000648082 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567536 SCV000672140 likely benign Hereditary cancer-predisposing syndrome 2015-11-05 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.
Sema4, Sema4 RCV000567536 SCV002532937 likely benign Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003886410 SCV004703129 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing SMARCA4: BP4, BP7

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