ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13554C>G (p.Arg4518=)

dbSNP: rs115535983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993125 SCV001145878 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Invitae RCV002549830 SCV003018399 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-06-19 criteria provided, single submitter clinical testing

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