ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) (rs148216434)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490355 SCV000267264 uncertain significance Osteogenesis imperfecta type I 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV000440571 SCV000512687 likely benign not specified 2016-08-22 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.
Invitae RCV000877791 SCV001020579 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001126949 SCV001286209 benign Infantile cortical hyperostosis 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001127360 SCV001286667 benign Ehlers-Danlos syndrome, arthrochalasia type, 1 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001127361 SCV001286668 benign Osteogenesis imperfecta 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). 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.
Invitae RCV000490355 SCV001705749 likely benign Osteogenesis imperfecta type I 2020-10-29 criteria provided, single submitter clinical testing

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