ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.779-4dup

dbSNP: rs567435072
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596028 SCV000704726 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000596028 SCV001145992 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510817 SCV001717955 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-11-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543351 SCV004779378 likely benign SYNE1-related disorder 2021-11-18 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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