ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4318+17C>T

gnomAD frequency: 0.00704  dbSNP: rs138964333
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513869 SCV000610843 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513869 SCV001157569 benign not provided 2024-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000513869 SCV001892211 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060219 SCV002367971 benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000513869 SCV005261919 likely benign not provided criteria provided, single submitter not provided

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