ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.882T>C (p.Asp294=)

dbSNP: rs201168622
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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 RCV000937599 SCV001083388 likely benign Bloom syndrome 2023-05-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256618 SCV002533174 likely benign Hereditary cancer-predisposing syndrome 2020-07-07 criteria provided, single submitter curation
Ambry Genetics RCV002256618 SCV002684278 likely benign Hereditary cancer-predisposing syndrome 2020-12-30 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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