ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.816G>A (p.Lys272=)

gnomAD frequency: 0.00038  dbSNP: rs139295905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556167 SCV000623353 benign Bloom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567633 SCV000672887 likely benign Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000567633 SCV002533173 likely benign Hereditary cancer-predisposing syndrome 2022-01-26 criteria provided, single submitter curation
Natera, Inc. RCV000556167 SCV002089977 likely benign Bloom syndrome 2018-04-09 no assertion criteria provided clinical testing

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