ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) (rs142985368)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174642 SCV000225974 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380430 SCV000460901 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285979 SCV000460902 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647647 SCV000769445 benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000647647 SCV001145948 benign not provided 2018-12-21 criteria provided, single submitter clinical testing

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