ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.10432-17T>G

gnomAD frequency: 0.00004  dbSNP: rs376299946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196415 SCV001367023 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-10-30 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001196415 SCV003281600 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2025-01-21 criteria provided, single submitter clinical testing

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