ClinVar Miner

Submissions for variant NM_004977.3(KCNC3):c.2170+14C>T

dbSNP: rs189018316
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625172 SCV000743999 benign Spinocerebellar ataxia type 13 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625172 SCV000745455 likely benign Spinocerebellar ataxia type 13 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518840 SCV001727612 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001518840 SCV001900834 benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518840 SCV005205867 likely benign not provided criteria provided, single submitter not provided

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