ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2301A>C (p.Pro767=)

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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 RCV003505547 SCV004254554 likely benign Bloom syndrome 2023-12-04 criteria provided, single submitter clinical testing

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