ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1278+19G>A

gnomAD frequency: 0.00014  dbSNP: rs181115405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002080385 SCV002375526 benign Early myoclonic encephalopathy 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713136 SCV005267029 benign not provided criteria provided, single submitter not provided

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