ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4008+19G>A

gnomAD frequency: 0.00071  dbSNP: rs202076757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428239 SCV000523666 likely benign not provided 2018-04-24 criteria provided, single submitter clinical testing
Invitae RCV002065045 SCV002402955 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922766 SCV004743432 likely benign SYNE1-related condition 2022-12-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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