ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.1473+5G>T

gnomAD frequency: 0.00294  dbSNP: rs114044880
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766765 SCV000530086 benign not provided 2019-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087130 SCV000646153 benign Osteogenesis imperfecta type 8 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000423443 SCV000709160 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097774 SCV001254084 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 RCV001087130 SCV001254085 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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