ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1882+20A>T

gnomAD frequency: 0.00001  dbSNP: rs773201778
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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 RCV001908988 SCV002174293 likely benign Bloom syndrome 2025-01-11 criteria provided, single submitter clinical testing

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