ClinVar Miner

Submissions for variant NM_014516.4(CNOT3):c.1473_1474del (p.Gly493fs)

dbSNP: rs1600471396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571672 SCV001796184 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28263302)
OMIM RCV000856721 SCV000999265 pathogenic Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 2019-11-27 no assertion criteria provided literature only

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