ClinVar Miner

Submissions for variant NM_022464.4(SIL1):c.368C>T (p.Thr123Ile) (rs115800498)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224693 SCV000280829 likely benign not provided 2016-01-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082152 SCV000114098 benign not specified 2013-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000082152 SCV000523317 likely benign not specified 2017-09-29 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.
Illumina Clinical Services Laboratory,Illumina RCV000388977 SCV000453115 uncertain significance Marinesco-Sjögren syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000388977 SCV000628016 benign Marinesco-Sjögren syndrome 2017-05-23 criteria provided, single submitter clinical testing

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