ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln)

gnomAD frequency: 0.00309  dbSNP: rs35831865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000303195 SCV000333441 benign not specified 2015-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647602 SCV000769400 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000647602 SCV002813677 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-05-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000303195 SCV001978415 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000303195 SCV001979252 benign not specified no assertion criteria provided clinical testing

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