Submissions for variant NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)

gnomAD frequency: 0.00103  dbSNP: rs121909217

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001153696	SCV001314999	uncertain significance	Corneal dystrophy	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.
Mendelics	RCV002247266	SCV002516088	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002512902	SCV003262455	likely benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002512902	SCV004161402	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	TGFBI: BS1, BS2
OMIM	RCV000008327	SCV000028535	pathogenic	Epithelial basement membrane dystrophy	2006-06-01	no assertion criteria provided	literature only