ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter)

dbSNP: rs1555607682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265960 SCV001444132 pathogenic Inborn genetic diseases 2018-10-04 criteria provided, single submitter clinical testing
OMIM RCV000578210 SCV000680087 pathogenic Intellectual disability, autosomal dominant 56 2021-10-20 no assertion criteria provided literature only

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