ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) (rs35793208)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000114250 SCV000232800 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000114250 SCV000316348 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000114250 SCV000514909 benign not specified 2015-04-07 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.
Invitae RCV000547961 SCV000634634 benign Joubert syndrome; Meckel-Gruber syndrome 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165121 SCV001327290 likely benign Meckel syndrome, type 3 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). 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.
Genetic Services Laboratory, University of Chicago RCV000114250 SCV000147809 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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