ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.540A>C (p.Val180=)

dbSNP: rs763776756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820287 SCV002064690 uncertain significance not specified 2019-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077301 SCV002413918 likely benign Bloom syndrome 2024-04-09 criteria provided, single submitter clinical testing

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