ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1380G>C (p.Val460=) (rs13135766)

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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 RCV000152831 SCV000202227 benign not specified 2014-01-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152831 SCV000316221 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293045 SCV000447420 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709667 SCV000744979 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000860422 SCV001000472 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000709667 SCV000734318 benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing

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