ClinVar Miner

Submissions for variant NM_001198533.2(OXR1):c.2340G>A (p.Glu780=)

gnomAD frequency: 0.39000  dbSNP: rs1681904
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
Genome-Nilou Lab RCV001788861 SCV002029361 benign Congenital cerebellar hypoplasia 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713101 SCV005267910 benign not provided criteria provided, single submitter not provided

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