ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9078G>A (p.Ser3026=)

gnomAD frequency: 0.00009  dbSNP: rs564176510
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000882912 SCV001026176 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479001 SCV002799931 likely benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2021-09-21 criteria provided, single submitter clinical testing

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