ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr)

gnomAD frequency: 0.00132  dbSNP: rs144108695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871709 SCV001013408 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-12-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288049 SCV001474867 likely benign not provided 2019-09-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001288049 SCV005212138 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003955680 SCV004771156 benign SYNE2-related disorder 2021-12-29 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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