ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2865A>G (p.Lys955=)

dbSNP: rs1896882039
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001470920 SCV001675019 likely benign Bloom syndrome 2020-08-30 criteria provided, single submitter clinical testing

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