ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9069G>A (p.Gln3023=)

gnomAD frequency: 0.63732  dbSNP: rs2075117
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 RCV001654946 SCV001869388 benign not provided 2019-01-18 criteria provided, single submitter clinical testing
Invitae RCV001654946 SCV002415413 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243367 SCV002514102 benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2021-12-05 criteria provided, single submitter clinical testing

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