ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)

gnomAD frequency: 0.00321  dbSNP: rs3738497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547688 SCV000646169 benign Osteogenesis imperfecta type 8 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099454 SCV001255909 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000547688 SCV001255910 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001539895 SCV001757719 likely benign not provided 2020-01-22 criteria provided, single submitter clinical testing

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