ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)

dbSNP: rs1554943158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000515527 SCV000590957 likely pathogenic Intellectual disability, autosomal dominant 24 2017-08-17 criteria provided, single submitter clinical testing This variant has been observed once in our laboratory de novo in a 3-year-old female with central hypotonia, global delays, ataxia, seizure disorder, autism spectrum disorder. A de novo DYNC1H1 missense variant was also present.
OMIM RCV000515527 SCV001334282 pathogenic Intellectual disability, autosomal dominant 24 2020-06-01 no assertion criteria provided literature only

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