ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.1818G>A (p.Pro606=)

gnomAD frequency: 0.00141  dbSNP: rs61742726
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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 RCV000914042 SCV001059201 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001809869 SCV002059761 uncertain significance Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000914042 SCV004148484 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing UNC80: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987739 SCV004803638 likely benign not specified 2024-01-22 criteria provided, single submitter clinical testing

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