Submissions for variant NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)

gnomAD frequency: 0.00572  dbSNP: rs61734466

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173874	SCV000225039	benign	not specified	2015-02-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000173874	SCV000312595	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094742	SCV000431455	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514177	SCV000610998	likely benign	not provided	2017-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV000383591	SCV001000888	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514177	SCV002544042	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	WDPCP: BP4, BS1, BS2