ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.609G>A (p.Glu203=)

gnomAD frequency: 0.00001  dbSNP: rs1171946587
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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 RCV001437231 SCV001640083 likely benign Spinocerebellar ataxia type 19/22 2022-08-15 criteria provided, single submitter clinical testing

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