ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3399A>G (p.Lys1133=)

dbSNP: rs2151194213
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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 RCV001451448 SCV001655076 likely benign Bloom syndrome 2020-05-27 criteria provided, single submitter clinical testing

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