ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3963A>G (p.Val1321=)

dbSNP: rs1325601639
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489742 SCV001694294 likely benign Bloom syndrome 2023-06-27 criteria provided, single submitter clinical testing

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