ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2407-9del

dbSNP: rs747699258
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
Counsyl RCV000668702 SCV000793346 uncertain significance Bloom syndrome 2017-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668702 SCV002366057 benign Bloom syndrome 2023-11-21 criteria provided, single submitter clinical testing

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