ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.933T>C (p.Ala311=)

gnomAD frequency: 0.00001  dbSNP: rs1413246062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533185 SCV000623357 likely benign Bloom syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002376979 SCV002684888 likely benign Hereditary cancer-predisposing syndrome 2021-12-05 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.
Natera, Inc. RCV000533185 SCV002089991 likely benign Bloom syndrome 2021-04-14 no assertion criteria provided clinical testing

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