ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.430-9del

dbSNP: rs771477893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281751 SCV000332545 uncertain significance not provided 2015-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059088 SCV002378072 likely benign Charcot-Marie-Tooth disease type 2 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897601 SCV004717263 likely benign KIF1B-related disorder 2021-10-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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