ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1351-24A>T

gnomAD frequency: 0.38135  dbSNP: rs4331993
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253998 SCV000315098 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001536160 SCV001752880 benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815225 SCV002062117 benign Arthrogryposis multiplex congenita 3, myogenic type 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815224 SCV002062118 benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815223 SCV002062119 benign Autosomal recessive ataxia, Beauce type 2021-07-15 criteria provided, single submitter clinical testing

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