ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.216G>A (p.Arg72=)

gnomAD frequency: 0.00047  dbSNP: rs140949631
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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 RCV000550286 SCV000632255 likely benign Early myoclonic encephalopathy 2024-12-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707316 SCV005221527 likely benign not provided criteria provided, single submitter not provided

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