ClinVar Miner

Submissions for variant NM_024649.4(BBS1):c.700G>A (p.Glu234Lys) (rs35520756)

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Total submissions: 7
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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 RCV000436346 SCV000510963 benign not provided 2016-06-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243662 SCV000336022 benign not specified 2015-10-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029405 SCV000373265 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000243662 SCV000699517 benign not specified 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV000029405 SCV000636512 benign Bardet-Biedl syndrome 2017-11-02 criteria provided, single submitter clinical testing
OMIM RCV000029405 SCV000033172 pathogenic Bardet-Biedl syndrome 2003-03-01 no assertion criteria provided literature only
PreventionGenetics RCV000243662 SCV000314364 benign not specified criteria provided, single submitter clinical testing

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