ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1266T>C (p.Ser422=)

gnomAD frequency: 0.00001  dbSNP: rs1895947616
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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 RCV001425551 SCV001628181 likely benign Bloom syndrome 2025-01-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258248 SCV002531282 likely benign Hereditary cancer-predisposing syndrome 2021-05-13 criteria provided, single submitter curation
Ambry Genetics RCV002258248 SCV002684503 likely benign Hereditary cancer-predisposing syndrome 2019-12-31 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.
Natera, Inc. RCV001425551 SCV002090022 likely benign Bloom syndrome 2019-10-05 no assertion criteria provided clinical testing

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