ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2688C>T (p.Leu896=)

dbSNP: rs1488182321
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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 RCV000548692 SCV000623284 likely benign Bloom syndrome 2022-08-05 criteria provided, single submitter clinical testing

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