Submissions for variant NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu)

gnomAD frequency: 0.03954  dbSNP: rs35761247

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253442	SCV000302261	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268877	SCV000445121	benign	Epidermolysis bullosa dystrophica	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.
SIB Swiss Institute of Bioinformatics	RCV000677318	SCV000803501	benign	Recessive dystrophic epidermolysis bullosa	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone, for Epidermolysis bullosa dystrophica, autosomal recessive, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523645	SCV001733398	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001523645	SCV001943585	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001523645	SCV005301402	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000253442	SCV001743046	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000253442	SCV001952360	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000268877	SCV002079262	benign	Epidermolysis bullosa dystrophica	2019-11-22	no assertion criteria provided	clinical testing