Submissions for variant NM_144596.4(TTC8):c.267C>A (p.Arg89=)

gnomAD frequency: 0.00008  dbSNP: rs200113889

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177429	SCV000229285	uncertain significance	not provided	2014-08-15	criteria provided, single submitter	clinical testing
Invitae	RCV001078936	SCV001002765	likely benign	Bardet-Biedl syndrome	2024-01-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001279	SCV001158455	benign	not specified	2019-06-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117606	SCV001275811	uncertain significance	Retinitis pigmentosa	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001117607	SCV001275812	uncertain significance	Bardet-Biedl syndrome 8	2017-04-28	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000177429	SCV004130241	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	TTC8: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003907599	SCV004727299	likely benign	TTC8-related condition	2023-01-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).