ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15505C>T (p.Leu5169=)

gnomAD frequency: 0.00008  dbSNP: rs372205287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841501 SCV000983471 likely benign not provided 2018-04-09 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 RCV002068591 SCV002445242 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-05-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000841501 SCV005042006 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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