ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4158T>G (p.Ser1386=)

gnomAD frequency: 0.00001  dbSNP: rs746522338
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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 RCV002176689 SCV002340203 likely benign Bloom syndrome 2023-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331666 SCV002628070 likely benign Hereditary cancer-predisposing syndrome 2020-03-30 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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