Submissions for variant NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)

gnomAD frequency: 0.00220  dbSNP: rs143960329

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000198717	SCV000253657	likely benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000393607	SCV000343138	likely benign	not specified	2016-07-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144903	SCV001305523	likely benign	Bardet-Biedl syndrome 12	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.
GeneDx	RCV001657986	SCV001873650	uncertain significance	not provided	2023-04-29	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001657986	SCV001926987	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001657986	SCV001974533	likely benign	not provided		no assertion criteria provided	clinical testing