ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.201T>C (p.Val67=)

gnomAD frequency: 0.00004  dbSNP: rs563887813
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628718 SCV000749624 likely benign Bloom syndrome 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420669 SCV002720361 likely benign Hereditary cancer-predisposing syndrome 2020-03-24 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 RCV003478341 SCV004222443 likely benign not provided 2022-09-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000628718 SCV002089897 likely benign Bloom syndrome 2018-06-30 no assertion criteria provided clinical testing

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