ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.1086C>T (p.Ala362=)

gnomAD frequency: 0.00001  dbSNP: rs777090883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001101546 SCV001258162 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287271 SCV001473945 likely benign Osteogenesis imperfecta type 8 2020-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001287271 SCV001700397 likely benign Osteogenesis imperfecta type 8 2023-10-04 criteria provided, single submitter clinical testing

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