ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.2409C>T (p.Asn803=)

gnomAD frequency: 0.00003  dbSNP: rs746800505
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001480495 SCV001684813 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2021-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847109 SCV002104838 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438569 SCV004149674 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing KIF1A: BP4, BP7

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