Submissions for variant NM_000359.3(TGM1):c.429C>T (p.Arg143=)

gnomAD frequency: 0.00239  dbSNP: rs144989372

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000974283	SCV001122099	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001112586	SCV001270258	likely benign	Autosomal recessive congenital ichthyosis 1	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab	RCV001112586	SCV002763951	likely benign	Autosomal recessive congenital ichthyosis 1		criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001112586	SCV001459987	benign	Autosomal recessive congenital ichthyosis 1	2020-09-16	no assertion criteria provided	clinical testing