Submissions for variant NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)

gnomAD frequency: 0.00272  dbSNP: rs150880478

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177430	SCV000229286	benign	not specified	2014-11-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177430	SCV000315995	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000559336	SCV000636548	benign	Bardet-Biedl syndrome	2024-01-29	criteria provided, single submitter	clinical testing
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP	RCV000559336	SCV000897992	uncertain significance	Bardet-Biedl syndrome	2018-10-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117608	SCV001275813	likely benign	Retinitis pigmentosa	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.
Illumina Laboratory Services, Illumina	RCV001119197	SCV001277551	benign	Bardet-Biedl syndrome 8	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000177430	SCV002051049	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Molecular Endocrinology Laboratory, Christian Medical College	RCV001119197	SCV002073517	uncertain significance	Bardet-Biedl syndrome 8		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706134	SCV004699263	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TTC8: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000177430	SCV001923643	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706134	SCV001927334	likely benign	not provided		no assertion criteria provided	clinical testing