ClinVar Miner

Submissions for variant NM_014494.4(TNRC6A):c.2362C>T (p.Pro788Ser)

gnomAD frequency: 0.18031  dbSNP: rs3803716
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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 RCV001838908 SCV002098621 benign Epilepsy, familial adult myoclonic, 6 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715583 SCV005293235 benign not provided criteria provided, single submitter not provided

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