ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1782A>G (p.Lys594=)

dbSNP: rs2151158960
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817274 SCV002071601 likely benign not specified 2017-10-26 criteria provided, single submitter clinical testing

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