ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2940T>G (p.Ala980=)

dbSNP: rs1596257223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391803 SCV001593434 likely benign Bloom syndrome 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438894 SCV002747835 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: 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.
CeGaT Center for Human Genetics Tuebingen RCV003394027 SCV004130911 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing BLM: PM2:Supporting, BP4, BP7

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