ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) (rs61734468)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080716 SCV000261759 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000249291 SCV000312599 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514094 SCV000611015 likely benign not provided 2017-08-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709653 SCV000743214 benign Bardet-Biedl syndrome 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709653 SCV000744307 likely benign Bardet-Biedl syndrome 1 2017-05-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138529 SCV001298590 likely benign Bardet-Biedl syndrome 15 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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