ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) (rs117195541)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114247 SCV000147805 benign not specified 2013-05-07 criteria provided, single submitter clinical testing
Invitae RCV000205181 SCV000259435 benign Joubert syndrome; Meckel-Gruber syndrome 2017-05-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114247 SCV000316335 benign not specified criteria provided, single submitter clinical testing
Tolun Lab, Human Genetics Laboratory,Bogazici University RCV000585745 SCV000583520 uncertain significance Bardet-Biedl syndrome 14 no assertion criteria provided research

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