ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.518-34G>A

gnomAD frequency: 0.39540  dbSNP: rs12277188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544195 SCV001763183 benign Intellectual disability-epilepsy-extrapyramidal syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544196 SCV001763184 benign Intellectual disability, autosomal dominant 24 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718911 SCV005319569 benign not provided criteria provided, single submitter not provided

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