ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys)

gnomAD frequency: 0.00002  dbSNP: rs767544504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288467 SCV001475589 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330205 SCV001521820 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV001288467 SCV005189306 uncertain significance not provided criteria provided, single submitter not provided

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