ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2194-11T>G

gnomAD frequency: 0.00006  dbSNP: rs8038505
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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 RCV002197086 SCV002343311 likely benign Bloom syndrome 2024-01-09 criteria provided, single submitter clinical testing

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