ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1340A>T (p.Asp447Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003987295 SCV004801907 likely pathogenic Congenital myasthenic syndrome 5 2024-03-05 criteria provided, single submitter clinical testing

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