ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1836G>A (p.Val612=)

gnomAD frequency: 0.00001  dbSNP: rs370014452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001446481 SCV001649528 likely benign Charcot-Marie-Tooth disease type 2 2024-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038445 SCV002712436 likely benign not specified 2020-11-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232335 SCV005878155 likely benign not provided 2024-04-16 criteria provided, single submitter clinical testing

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