ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro) (rs1554554236)

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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 RCV000587826 SCV000693914 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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