ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.972C>T (p.Asp324=)

dbSNP: rs769094708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019684 SCV001181073 likely benign Hereditary cancer-predisposing syndrome 2019-04-11 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.
Genetic Services Laboratory, University of Chicago RCV001819731 SCV002072339 uncertain significance not specified 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003505160 SCV004330711 likely benign Bloom syndrome 2023-05-22 criteria provided, single submitter clinical testing

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