ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) (rs115563233)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251115 SCV000316334 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723708 SCV000331449 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV001087450 SCV001002891 benign Joubert syndrome; Meckel-Gruber syndrome 2020-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163248 SCV001325268 likely benign Meckel syndrome, type 3 2017-06-01 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001163249 SCV001325269 benign Joubert syndrome 6 2017-06-01 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001163250 SCV001325270 benign Nephronophthisis 11 2017-06-01 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneReviews RCV000234818 SCV000292017 uncertain significance Nephronophthisis 2016-02-10 no assertion criteria provided literature only

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