ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2194-6A>G

gnomAD frequency: 0.00001  dbSNP: rs946104255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869047 SCV001010442 likely benign Bloom syndrome 2024-11-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478541 SCV004222446 likely benign not provided 2023-02-14 criteria provided, single submitter clinical testing

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