ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=)

gnomAD frequency: 0.00357  dbSNP: rs192024023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974942 SCV001122815 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489428 SCV002797239 likely benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2022-04-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000974942 SCV005240976 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004535983 SCV004750991 benign UNC80-related disorder 2022-10-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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