ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3019+17T>C

gnomAD frequency: 0.00002  dbSNP: rs532036885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989395 SCV001139710 likely benign Bloom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989395 SCV002466837 benign Bloom syndrome 2024-01-25 criteria provided, single submitter clinical testing

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