ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25246+18A>C

gnomAD frequency: 0.00816  dbSNP: rs11756479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423877 SCV000523737 benign not specified 2016-03-29 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 RCV001511006 SCV001718179 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000423877 SCV001919559 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000423877 SCV001965413 benign not specified no assertion criteria provided clinical testing

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