ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17851-7G>T

gnomAD frequency: 0.00001  dbSNP: rs776806501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730582 SCV000858330 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
Invitae RCV002535158 SCV001097773 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-07-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000730582 SCV001880828 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing

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