ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.3918T>C (p.Asp1306=)

gnomAD frequency: 0.35918  dbSNP: rs3803167
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001637957 SCV001848885 benign not provided 2018-07-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658363 SCV001876450 benign Developmental and epileptic encephalopathy, 67 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637957 SCV005231462 benign not provided criteria provided, single submitter not provided

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