ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter) (rs386834205)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050200 SCV000082610 probable-pathogenic Meckel syndrome type 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
UW Hindbrain Malformation Research Program,University of Washington RCV000201769 SCV000256511 pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research

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