ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.175_176del (p.Val59fs)

dbSNP: rs2151146787
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001533171 SCV001746614 pathogenic Bloom syndrome 2021-01-04 criteria provided, single submitter clinical testing

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