ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22873G>A (p.Val7625Met)

dbSNP: rs749743156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809301 SCV002059828 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-11-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261385 SCV002542243 uncertain significance not provided 2021-11-18 criteria provided, single submitter clinical testing

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