ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3039T>C (p.His1013=)

dbSNP: rs747406569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000936988 SCV001082762 likely benign Bloom syndrome 2023-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018245 SCV001179456 likely benign Hereditary cancer-predisposing syndrome 2018-12-29 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 RCV001018245 SCV002530016 likely benign Hereditary cancer-predisposing syndrome 2021-12-29 criteria provided, single submitter curation
Natera, Inc. RCV000936988 SCV001461112 uncertain significance Bloom syndrome 2020-04-24 no assertion criteria provided clinical testing

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