ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1173C>T (p.Gly391=)

gnomAD frequency: 0.00004  dbSNP: rs533201615
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410791 SCV001612842 likely benign Spinocerebellar ataxia type 19/22 2022-12-06 criteria provided, single submitter clinical testing

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