ClinVar Miner

Submissions for variant NM_018023.5(YEATS2):c.1588G>A (p.Val530Ile)

gnomAD frequency: 0.38998  dbSNP: rs262993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002245252 SCV002514074 benign Epilepsy, familial adult myoclonic, 4 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716893 SCV005302582 benign not provided criteria provided, single submitter not provided

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