ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3358+7_3358+13del

dbSNP: rs1555423799
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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 RCV000628699 SCV000749605 likely benign Bloom syndrome 2024-08-15 criteria provided, single submitter clinical testing

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