ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2557-3T>G

dbSNP: rs1808586167
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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 RCV001262720 SCV001440691 uncertain significance Meckel syndrome, type 3 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001706725 SCV001934536 uncertain significance Joubert syndrome 6 2020-08-28 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508797 SCV002818156 likely pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing

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