ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9123T>C (p.Ser3041=)

gnomAD frequency: 0.00003  dbSNP: rs139593613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592574 SCV000704149 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005223024 SCV005867157 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-03-27 criteria provided, single submitter clinical testing

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