ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2241A>G (p.Thr747=)

gnomAD frequency: 0.00001  dbSNP: rs1060503987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473333 SCV000555824 likely benign Bloom syndrome 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014903 SCV001175672 likely benign Hereditary cancer-predisposing syndrome 2019-04-09 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 RCV001014903 SCV002529281 likely benign Hereditary cancer-predisposing syndrome 2021-08-11 criteria provided, single submitter curation
Natera, Inc. RCV000473333 SCV002088049 likely benign Bloom syndrome 2018-03-27 no assertion criteria provided clinical testing

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