ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3426C>T (p.Ala1142=)

gnomAD frequency: 0.00010  dbSNP: rs147148171
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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 RCV000457008 SCV000555842 likely benign Bloom syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020271 SCV001181727 likely benign Hereditary cancer-predisposing syndrome 2018-07-31 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 RCV001020271 SCV002532422 likely benign Hereditary cancer-predisposing syndrome 2020-12-28 criteria provided, single submitter curation
Natera, Inc. RCV000457008 SCV001456896 likely benign Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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