ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)

gnomAD frequency: 0.00014  dbSNP: rs370053768
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725630 SCV000338298 uncertain significance not provided 2016-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000275164 SCV000732379 likely benign not specified 2017-05-19 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.
Invitae RCV000647678 SCV000769476 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000275164 SCV001880835 likely benign not specified 2020-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725630 SCV004160531 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003930113 SCV004738316 likely benign SYNE1-related condition 2019-09-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725630 SCV001926437 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725630 SCV001969188 likely benign not provided no assertion criteria provided clinical testing

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