ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3875-8A>C

dbSNP: rs1897406255
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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 RCV002212505 SCV002367153 likely benign Bloom syndrome 2021-08-08 criteria provided, single submitter clinical testing

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