ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4122C>T (p.Ser1374=)

dbSNP: rs145277875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000538407 SCV000789675 likely benign Bloom syndrome 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV000538407 SCV001644648 likely benign Bloom syndrome 2023-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326784 SCV002632682 likely benign Hereditary cancer-predisposing syndrome 2021-08-21 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477460 SCV004222498 likely benign not provided 2022-11-23 criteria provided, single submitter clinical testing

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