ClinVar Miner

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

dbSNP: rs1567052156
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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 RCV001481204 SCV001685541 likely benign Bloom syndrome 2021-07-26 criteria provided, single submitter clinical testing

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