ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.1626G>A (p.Thr542=)

gnomAD frequency: 0.00007  dbSNP: rs577059613
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541733 SCV000646157 benign Osteogenesis imperfecta type 8 2025-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095990 SCV001252170 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 RCV000541733 SCV001252171 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.
GeneDx RCV001546295 SCV001765791 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279351 SCV002564952 likely benign Osteogenesis imperfecta 2022-07-18 criteria provided, single submitter clinical testing

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