Submissions for variant NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)

gnomAD frequency: 0.02339  dbSNP: rs726070

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250672	SCV000316477	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293292	SCV000427254	benign	Congenital ichthyosis of skin	2018-03-06	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.
Mendelics	RCV000002995	SCV001136207	benign	Autosomal recessive congenital ichthyosis 4B	2019-05-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000250672	SCV002051038	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054411	SCV002473601	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490301	SCV002794678	likely benign	Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B	2021-10-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002054411	SCV003916235	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ABCA12: BP4, BS1, BS2; SNHG31: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV002054411	SCV005258306	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000002995	SCV000023153	pathogenic	Autosomal recessive congenital ichthyosis 4B	2005-05-01	no assertion criteria provided	literature only