ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1372-14T>C

gnomAD frequency: 0.00001  dbSNP: rs758741005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003007430 SCV003302608 likely benign Spinocerebellar ataxia type 19/22 2022-08-12 criteria provided, single submitter clinical testing

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