ClinVar Miner

Submissions for variant NM_032504.1(UNC80):c.1806G>C (p.Gln602His) (rs200473652)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000258922 SCV000328693 likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2016-10-13 criteria provided, single submitter research
Invitae RCV000963427 SCV001110579 likely benign not provided 2019-02-07 criteria provided, single submitter clinical testing
Mendelics RCV000258922 SCV001136157 uncertain significance Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2019-05-28 criteria provided, single submitter clinical testing

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