ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.87A>G (p.Lys29=)

dbSNP: rs1895535691
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001472263 SCV001676392 likely benign Bloom syndrome 2025-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389875 SCV004130900 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing BLM: BP4, BP7

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