ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.579del (p.Gly195fs) (rs386834203)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000050197 SCV001150293 pathogenic Meckel syndrome, type 3 2018-05-23 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050197 SCV000082607 probable-pathogenic Meckel syndrome, type 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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