ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) (rs145195048)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000408042 SCV000334313 likely benign not specified 2015-08-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389798 SCV000461379 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288135 SCV000461380 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525996 SCV000649216 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000408042 SCV000730128 likely benign not specified 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000525996 SCV001145995 benign not provided 2019-02-12 criteria provided, single submitter clinical testing

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