ClinVar Miner

Submissions for variant NM_004321.8(KIF1A):c.935C>A (p.Thr312Asn)

dbSNP: rs779049732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002221828 SCV002499064 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing PM2
MGZ Medical Genetics Center RCV002290849 SCV002579276 likely pathogenic Intellectual disability, autosomal dominant 9 2021-07-01 criteria provided, single submitter clinical testing

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