ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.15132T>A (p.Leu5044=)

gnomAD frequency: 0.00028  dbSNP: rs201429908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555020 SCV000648863 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945282 SCV004773138 likely benign SYNE2-related disorder 2020-01-31 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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