ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)

gnomAD frequency: 0.00001  dbSNP: rs370421580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002114824 SCV002444553 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-07-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508088 SCV002801133 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2022-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434439 SCV004160505 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7
Revvity Omics, Revvity RCV003434439 SCV004237940 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing

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