ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.513A>G (p.Thr171=)

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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 RCV002856774 SCV003221311 likely benign Bloom syndrome 2022-07-15 criteria provided, single submitter clinical testing

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