ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1725A>G (p.Ala575=)

dbSNP: rs2151158860
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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 RCV001484016 SCV001688424 likely benign Bloom syndrome 2021-02-09 criteria provided, single submitter clinical testing

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