ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.186T>C (p.Cys62=) (rs115660279)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000245192 SCV000703539 likely benign not specified 2016-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000245192 SCV000517114 likely benign not specified 2016-07-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000291370 SCV000475323 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339372 SCV000475324 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377674 SCV000475325 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000196386 SCV000253659 benign Joubert syndrome; Meckel-Gruber syndrome 2017-05-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245192 SCV000316330 likely benign not specified criteria provided, single submitter clinical testing

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