Submissions for variant NM_173076.3(ABCA12):c.1062-8T>A

gnomAD frequency: 0.00082  dbSNP: rs190613499

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000895510	SCV001039555	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139547	SCV001299716	likely benign	Congenital ichthyosis of skin	2017-04-27	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000895510	SCV004151329	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ABCA12: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003910666	SCV004726783	likely benign	ABCA12-related disorder	2019-04-01	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).