ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.2646T>C (p.Asn882=)

gnomAD frequency: 0.00374  dbSNP: rs77312856
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875856 SCV001018332 benign Spastic ataxia 2 2024-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001655630 SCV001866394 benign not provided 2020-02-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655630 SCV005254800 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003895370 SCV004720081 benign KIF1C-related disorder 2019-08-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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