ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=)

gnomAD frequency: 0.00325  dbSNP: rs35106977
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087757 SCV000649114 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000756736 SCV000715206 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756736 SCV000884631 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000603399 SCV001880854 benign not specified 2021-03-29 criteria provided, single submitter clinical testing

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