ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4803C>T (p.His1601=)

gnomAD frequency: 0.00003  dbSNP: rs780621329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416951 SCV001619141 likely benign Charcot-Marie-Tooth disease type 2 2024-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038141 SCV002636166 benign not specified 2021-03-31 criteria provided, single submitter clinical testing This alteration is classified as 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.

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