ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.348C>T (p.Asp116=)

gnomAD frequency: 0.00002  dbSNP: rs756600533
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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 RCV002111139 SCV002384167 likely benign Spinocerebellar ataxia type 19/22 2022-08-16 criteria provided, single submitter clinical testing

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