ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1598G>A (p.Gly533Glu) (rs1586063519)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics,Ege University RCV000790396 SCV000925634 uncertain significance Joubert syndrome 6 2019-05-15 criteria provided, single submitter clinical testing

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