ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2838A>T (p.Thr946=)

dbSNP: rs200850440
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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 RCV000531189 SCV000623291 likely benign Bloom syndrome 2017-01-19 criteria provided, single submitter clinical testing

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