ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3159C>T (p.Asp1053=)

gnomAD frequency: 0.00001  dbSNP: rs761993869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718993 SCV000724341 likely benign not provided 2019-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438588 SCV002748191 likely benign Inborn genetic diseases 2018-04-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529760 SCV003516617 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2022-12-04 criteria provided, single submitter clinical testing

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