ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln)

gnomAD frequency: 0.00003  dbSNP: rs554186246
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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 RCV001434475 SCV001637281 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-04-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001434475 SCV003818841 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-07-03 criteria provided, single submitter clinical testing

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