ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.99-9_99-7del

dbSNP: rs1229333064
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
Invitae RCV000688943 SCV000816574 likely benign Bloom syndrome 2022-09-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000688943 SCV002089885 uncertain significance Bloom syndrome 2021-06-18 no assertion criteria provided clinical testing

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