ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2556-8T>C

dbSNP: rs1567052156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003492150 SCV000838973 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
Invitae RCV000709365 SCV001634104 likely benign Bloom syndrome 2023-12-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256491 SCV002529414 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-12 criteria provided, single submitter curation

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