ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)

gnomAD frequency: 0.00008  dbSNP: rs118022241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603191 SCV000726754 likely benign not specified 2018-01-22 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.
Eurofins Ntd Llc (ga) RCV000728960 SCV000856589 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000728960 SCV001145980 benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521385 SCV001730723 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-17 criteria provided, single submitter clinical testing

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