ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1116-16T>A

gnomAD frequency: 0.00442  dbSNP: rs192275893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115805 SCV002407317 benign Early myoclonic encephalopathy 2025-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479407 SCV004223755 benign not specified 2023-11-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713139 SCV005267028 benign not provided criteria provided, single submitter not provided

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