ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1305T>C (p.Leu435=)

gnomAD frequency: 0.00001  dbSNP: rs778967807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001027932 SCV000749617 likely benign Bloom syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010879 SCV001171135 likely benign Hereditary cancer-predisposing syndrome 2019-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001010879 SCV002531294 likely benign Hereditary cancer-predisposing syndrome 2021-12-28 criteria provided, single submitter curation
Natera, Inc. RCV001027932 SCV001190661 likely benign Bloom syndrome 2019-05-20 no assertion criteria provided clinical testing

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