ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) (rs672601366)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHU Sainte-Justine Research Center,University of Montreal RCV000149478 SCV000196123 likely pathogenic Mental retardation, autosomal dominant 9 2014-01-01 no assertion criteria provided clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000149478 SCV000680110 pathogenic Mental retardation, autosomal dominant 9 2016-06-01 no assertion criteria provided clinical testing
OMIM RCV000149478 SCV000245997 pathogenic Mental retardation, autosomal dominant 9 2014-09-29 no assertion criteria provided literature only

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