ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr) (rs376327805)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516367 SCV000615542 uncertain significance not specified 2017-03-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727133 SCV000706042 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000516367 SCV000864275 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing BS1, BP1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and is predicted to be tolerated by multiple functional prediction tools.

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