ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12411C>T (p.His4137=)

gnomAD frequency: 0.00039  dbSNP: rs751325537
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000324286 SCV000338256 benign not specified 2015-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000713593 SCV000531971 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV001084665 SCV000649026 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713593 SCV000844218 benign not provided 2017-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502128 SCV002806674 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2021-11-22 criteria provided, single submitter clinical testing

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