ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) (rs148556501)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000389980 SCV000337539 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329165 SCV000460983 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386217 SCV000460984 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647712 SCV000769510 benign not provided 2018-06-15 criteria provided, single submitter clinical testing

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