ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val)

gnomAD frequency: 0.00002  dbSNP: rs746060505
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517761 SCV000615658 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV002060265 SCV002415036 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-12-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000878962 SCV003826457 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing

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