ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1536A>G (p.Gly512=)

gnomAD frequency: 0.00001  dbSNP: rs777277614
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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 RCV000871253 SCV001012869 likely benign Bloom syndrome 2025-01-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255559 SCV002531360 likely benign Hereditary cancer-predisposing syndrome 2021-04-08 criteria provided, single submitter curation
Ambry Genetics RCV002255559 SCV002706198 likely benign Hereditary cancer-predisposing syndrome 2020-07-15 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.
Natera, Inc. RCV000871253 SCV002092370 likely benign Bloom syndrome 2021-07-07 no assertion criteria provided clinical testing

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