ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2370A>G (p.Ala790=)

gnomAD frequency: 0.00001  dbSNP: rs747537954
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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 RCV001414220 SCV001616350 likely benign Bloom syndrome 2025-01-29 criteria provided, single submitter clinical testing

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