ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2760T>G (p.Ala920=)

dbSNP: rs1321253830
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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 RCV001436154 SCV001638989 likely benign Bloom syndrome 2025-02-02 criteria provided, single submitter clinical testing

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