ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24723C>T (p.His8241=)

dbSNP: rs141586001
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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) RCV000729361 SCV000857016 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
Invitae RCV001432811 SCV001635590 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-05-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938103 SCV004756965 likely benign SYNE1-related condition 2019-04-16 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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