ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.2924G>A (p.Arg975His) (rs191759530)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000382096 SCV000475365 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287697 SCV000475366 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351936 SCV000475367 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing

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