ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.2754_2762del (p.Asp918_Glu920del)

dbSNP: rs1370485087
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732643 SCV001982965 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of three amino acids.; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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