Submissions for variant NM_022356.4(P3H1):c.611C>A (p.Pro204His)

gnomAD frequency: 0.00751  dbSNP: rs77208721

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000999909	SCV000646178	benign	Osteogenesis imperfecta type 8	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000610522	SCV000719267	benign	not specified	2017-10-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999909	SCV000885881	likely benign	Osteogenesis imperfecta type 8	2021-03-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096112	SCV001252302	uncertain significance	Osteogenesis Imperfecta, Recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV000999909	SCV001254183	benign	Osteogenesis imperfecta type 8	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 Diagnostics Laboratory, The Hospital for Sick Children	RCV002279355	SCV002564965	benign	Osteogenesis imperfecta	2021-09-13	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573726	SCV001800019	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000610522	SCV001808411	benign	not specified		no assertion criteria provided	clinical testing