ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs)

dbSNP: rs2151163791
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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 RCV001951557 SCV002238583 pathogenic Bloom syndrome 2021-08-16 criteria provided, single submitter clinical testing

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