ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) (rs117184249)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000323700 SCV000461435 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359536 SCV000461436 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000713682 SCV000649201 benign not provided 2018-11-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713682 SCV000844309 likely benign not provided 2017-08-16 criteria provided, single submitter clinical testing

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