ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3875-6T>C

gnomAD frequency: 0.00001  dbSNP: rs1021714718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989399 SCV001139715 likely benign Bloom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989399 SCV001658772 likely benign Bloom syndrome 2024-08-12 criteria provided, single submitter clinical testing

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