ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19104+17A>G

gnomAD frequency: 0.05731  dbSNP: rs17082389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244873 SCV000315119 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244873 SCV000519717 benign not specified 2016-01-29 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 RCV001514712 SCV001722623 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2025-02-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699092 SCV001921164 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000244873 SCV001966609 benign not specified no assertion criteria provided clinical testing

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