ClinVar Miner

Submissions for variant NM_001163435.3(TBCK):c.2060-2A>G (rs62321379)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000210871 SCV000586847 likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 criteria provided, single submitter research
OMIM RCV000210871 SCV000267186 pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2016-05-19 no assertion criteria provided literature only
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000210871 SCV000599271 likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2016-06-20 no assertion criteria provided clinical testing

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