Submissions for variant NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr)

gnomAD frequency: 0.99785  dbSNP: rs7560008

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248760	SCV000316468	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319091	SCV000427292	benign	Congenital ichthyosis of skin	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab	RCV001544487	SCV001763545	benign	Autosomal recessive congenital ichthyosis 4A	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001544488	SCV001763546	benign	Autosomal recessive congenital ichthyosis 4B	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001675764	SCV001892896	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001675764	SCV002335562	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001675764	SCV005243794	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248760	SCV001743792	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001675764	SCV001956863	likely benign	not provided		no assertion criteria provided	clinical testing