ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)

gnomAD frequency: 0.00007  dbSNP: rs371204427
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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 RCV000517836 SCV000615638 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726698 SCV000702186 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Invitae RCV001413531 SCV001615649 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-11-08 criteria provided, single submitter clinical testing

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