ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.234C>T (p.Pro78=)

dbSNP: rs970793829
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001432274 SCV001635039 likely benign Bloom syndrome 2024-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307655 SCV003999958 likely benign Hereditary cancer-predisposing syndrome 2023-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479236 SCV004223155 likely benign not specified 2023-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001432274 SCV002089902 likely benign Bloom syndrome 2021-08-02 no assertion criteria provided clinical testing

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