ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) (rs199670962)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000376904 SCV000461545 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284781 SCV000461546 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647684 SCV000769482 benign not provided 2018-12-05 criteria provided, single submitter clinical testing

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