ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) (rs138264334)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000379063 SCV000338681 likely benign not specified 2016-01-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294496 SCV000461489 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349521 SCV000461490 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000713666 SCV000649181 benign not provided 2019-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000379063 SCV000714242 likely benign not specified 2017-12-29 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.
Athena Diagnostics Inc RCV000713666 SCV000844293 benign not provided 2018-08-09 criteria provided, single submitter clinical testing

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