ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291105 SCV002583341 likely pathogenic Bloom syndrome 2021-12-01 no assertion criteria provided clinical testing

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