ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1410C>T (p.Cys470=) (rs13135445)

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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 RCV000152833 SCV000202229 benign not specified 2014-01-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152833 SCV000316225 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343692 SCV000447424 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709665 SCV000744982 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000860424 SCV001000474 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000709665 SCV000734320 benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing

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