ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.690C>T (p.His230=)

gnomAD frequency: 0.00004  dbSNP: rs761836784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001428687 SCV001631393 likely benign Charcot-Marie-Tooth disease type 2 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377687 SCV002667433 benign Hereditary cancer-predisposing syndrome 2021-09-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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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