ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.417A>G (p.Leu139=)

gnomAD frequency: 0.00001  dbSNP: rs756759106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021996 SCV001183683 likely benign Hereditary cancer-predisposing syndrome 2019-06-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549547 SCV003512933 likely benign Bloom syndrome 2024-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389856 SCV004130901 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing BLM: BP4, BP7

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