ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1372-4C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002383724 SCV002697213 uncertain significance Cardiovascular phenotype 2019-09-05 criteria provided, single submitter clinical testing The c.1372-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 4 in the KCND3 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095048 SCV003243152 likely benign Spinocerebellar ataxia type 19/22 2023-10-05 criteria provided, single submitter clinical testing

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