ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)

gnomAD frequency: 0.06024  dbSNP: rs6700677
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443398 SCV000516500 benign not specified 2016-05-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000532565 SCV000646142 benign Osteogenesis imperfecta type 8 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000532565 SCV000884277 benign Osteogenesis imperfecta type 8 2023-11-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101548 SCV001258164 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 RCV000532565 SCV001258165 benign Osteogenesis imperfecta type 8 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab RCV000532565 SCV001981339 benign Osteogenesis imperfecta type 8 2021-08-19 criteria provided, single submitter clinical testing

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