ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1338G>A (p.Gln446=)

gnomAD frequency: 0.00018  dbSNP: rs144966242
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530628 SCV000632251 likely benign Early myoclonic encephalopathy 2023-09-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230534 SCV003928356 benign not specified 2023-04-10 criteria provided, single submitter clinical testing

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