ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2901T>A (p.Pro967=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002615478 SCV003500603 likely benign Bloom syndrome 2024-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004603300 SCV005101933 likely benign Hereditary cancer-predisposing syndrome 2024-06-21 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.

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