ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) (rs115098969)

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Total submissions: 3
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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 RCV000420793 SCV000511050 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173825 SCV000224980 likely benign not specified 2015-03-05 criteria provided, single submitter clinical testing
Invitae RCV000652119 SCV000773987 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2017-11-14 criteria provided, single submitter clinical testing

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