ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3777T>A (p.Val1259=)

dbSNP: rs2151198287
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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 RCV001401745 SCV001603575 likely benign Bloom syndrome 2020-03-02 criteria provided, single submitter clinical testing

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