ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) (rs187003641)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000114170 SCV000147722 uncertain significance Meckel-Gruber syndrome 2013-08-07 criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000176277 SCV000227907 likely benign not specified 2017-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515156 SCV000611381 uncertain significance COACH syndrome 1; Meckel syndrome type 6; Joubert syndrome 9 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV001719852 SCV000727457 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
Invitae RCV000636974 SCV000758422 likely benign Joubert syndrome; Meckel-Gruber syndrome 2020-11-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001146035 SCV001306748 uncertain significance Joubert syndrome 9 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.
Illumina Clinical Services Laboratory,Illumina RCV001146036 SCV001306749 uncertain significance Meckel syndrome type 6 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.

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