ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) (rs146567178)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000281910 SCV000340511 likely benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710238 SCV000615549 benign not provided 2017-12-20 criteria provided, single submitter clinical testing
Invitae RCV000710238 SCV000769516 likely benign not provided 2018-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000710238 SCV000985005 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710238 SCV001154938 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710238 SCV001931586 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000281910 SCV001958506 benign not specified no assertion criteria provided clinical testing

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