ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu) (rs1554561389)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000590165 SCV000693915 uncertain significance Joubert syndrome 6 2017-06-26 criteria provided, single submitter research Found in trans with another missense variant in 1 individual with an abnormality of brain morphology. Both missense variants absent from gnomAD.

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