ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter)

gnomAD frequency: 0.04036  dbSNP: rs12077871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000243675 SCV000308393 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393485 SCV000357543 likely benign Epiphyseal dysplasia, multiple, 2 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.
GeneDx RCV000243675 SCV000730949 benign not specified 2016-12-13 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.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000243675 SCV001984219 benign not specified 2020-03-25 criteria provided, single submitter clinical testing

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