ClinVar Miner

Submissions for variant NM_001142301.1(TMEM67):c.408+2T>G (rs199821258)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000050199 SCV001428601 uncertain significance Meckel syndrome, type 3 2017-04-21 criteria provided, single submitter clinical testing
OMIM RCV000001439 SCV000021589 pathogenic Joubert syndrome 6 2007-01-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050199 SCV000082609 probable-pathogenic Meckel syndrome, type 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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