ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.708C>T (p.Cys236=)

gnomAD frequency: 0.00009  dbSNP: rs183473998
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000950527 SCV001096841 benign Early myoclonic encephalopathy 2023-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712939 SCV005267027 benign not provided criteria provided, single submitter not provided

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