ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.25G>A (p.Val9Met) (rs199961375)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173581 SCV000224705 benign not specified 2015-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000173581 SCV000730171 likely benign not specified 2017-07-31 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 RCV000860917 SCV001001098 benign Joubert syndrome; Meckel-Gruber syndrome 2020-11-30 criteria provided, single submitter clinical testing
Mendelics RCV000988093 SCV001137675 benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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