ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.33G>A (p.Glu11=)

dbSNP: rs1895533244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258455 SCV002532400 likely benign Hereditary cancer-predisposing syndrome 2020-11-06 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003614091 SCV004509576 likely benign Bloom syndrome 2023-09-08 criteria provided, single submitter clinical testing

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