ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys)

dbSNP: rs2047950288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001255359 SCV001431689 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.2644C>A, p.(Gln882Lys) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was DNV.The variant likely explains the NDD in this individual.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262493 SCV001440394 likely pathogenic Intellectual disability, autosomal dominant 13 2019-01-01 criteria provided, single submitter clinical testing

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