ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1992C>G (p.Gly664=)

dbSNP: rs886043359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875786 SCV001018260 likely benign Bloom syndrome 2023-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416074 SCV002718582 likely benign Hereditary cancer-predisposing syndrome 2021-01-06 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.
CeGaT Center for Human Genetics Tuebingen RCV003392666 SCV004130905 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing BLM: PM2:Supporting, BP4, BP7

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