ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.183+17G>C

gnomAD frequency: 0.00357  dbSNP: rs113047933
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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 RCV002124832 SCV002406878 benign Spastic ataxia 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV002463117 SCV002757390 likely benign not provided 2019-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002124832 SCV002802613 likely benign Spastic ataxia 2 2022-04-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002463117 SCV005254775 benign not provided criteria provided, single submitter not provided

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