ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4855C>G (p.Pro1619Ala)

gnomAD frequency: 0.00016  dbSNP: rs146177892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001504882 SCV001709768 likely benign Charcot-Marie-Tooth disease type 2 2022-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334557 SCV002637960 likely benign Hereditary cancer-predisposing syndrome 2020-10-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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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