Submissions for variant NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=)

gnomAD frequency: 0.00290  dbSNP: rs117273116

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000359872	SCV000413278	likely benign	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000957744	SCV000531885	likely benign	not provided	2021-03-17	criteria provided, single submitter	clinical testing
Invitae	RCV000957744	SCV001104561	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000957744	SCV001501727	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LTBP4: BP4, BP7, BS2