ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1381A>C (p.Asn461His) (rs10027479)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249356 SCV000316222 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000249356 SCV000343140 benign not specified 2016-07-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094860 SCV000447421 likely benign Bardet-Biedl syndrome 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000350363 SCV000558137 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000086943 SCV000610169 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709643 SCV000743649 benign Bardet-Biedl syndrome 1 2014-12-15 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709643 SCV000744980 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086943 SCV000119195 not provided not provided no assertion provided not provided

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