Submissions for variant NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)

gnomAD frequency: 0.00886  dbSNP: rs34224785

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000948021	SCV001094215	benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000991066	SCV001142174	uncertain significance	Posterior polymorphous corneal dystrophy 1	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001143497	SCV001304026	likely benign	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002265913	SCV002547610	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001276999	SCV001463729	benign	Corneal dystrophy-perceptive deafness syndrome	2020-01-08	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003933260	SCV004748137	likely benign	SLC4A11-related disorder	2020-07-27	no assertion criteria provided	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).