ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3845dup (p.Leu1282fs)

dbSNP: rs1897350204
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310121 SCV001499664 likely pathogenic Bloom syndrome 2020-04-02 criteria provided, single submitter clinical testing

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