ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.99-36G>A

gnomAD frequency: 0.60216  dbSNP: rs3743560
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001723022 SCV001947113 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243451 SCV002514248 benign Poikiloderma with neutropenia 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723022 SCV005248709 benign not provided criteria provided, single submitter not provided

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