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: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002065045 SCV002402955 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000428239 SCV005227944 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004533017 SCV004743432 likely benign SYNE1-related disorder 2022-12-18 no assertion criteria provided 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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