ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1794C>T (p.Asp598=)

gnomAD frequency: 0.00002  dbSNP: rs181971539
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712059 SCV000842473 benign not provided 2017-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001441664 SCV001644595 likely benign Spinocerebellar ataxia type 19/22 2023-11-06 criteria provided, single submitter clinical testing

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