ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17322G>T (p.Leu5774=)

gnomAD frequency: 0.00004  dbSNP: rs752995421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430437 SCV000530948 likely benign not specified 2016-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001416554 SCV001618736 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430437 SCV005077362 likely benign not specified 2024-04-05 criteria provided, single submitter clinical testing

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