Submissions for variant NM_013435.3(RAX):c.148A>C (p.Thr50Pro)

gnomAD frequency: 0.01073  dbSNP: rs150622912

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877805	SCV001020594	benign	Isolated microphthalmia 3	2024-11-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000877805	SCV001281746	benign	Isolated microphthalmia 3	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001559357	SCV001781571	likely benign	not provided	2019-10-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 20494911)
Breakthrough Genomics, Breakthrough Genomics	RCV001559357	SCV005209512	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV001559357	SCV005434628	benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	RAX: BS1, BS2