ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.1341+7G>T

gnomAD frequency: 0.00044  dbSNP: rs184947396
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001700371 SCV000522539 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000538264 SCV000638534 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2025-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848764 SCV002104820 likely benign Hereditary spastic paraplegia 2019-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001700371 SCV004149680 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing KIF1A: BP4
Clinical Genetics, Academic Medical Center RCV001700371 SCV001925340 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700371 SCV001974638 likely benign not provided no assertion criteria provided clinical testing

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