ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.1575+5G>A (rs1554555063)

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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 RCV000590124 SCV000693889 likely pathogenic Joubert syndrome 6 2017-06-26 criteria provided, single submitter research Despite not meeting strict ACMG criteria for Likely Pathogenic, we believe this is the correct classification, due to the specificity of the phenotype (PP4) as well as PM2: Absent from gnomAD (reasonable coverage, exomes 40X, genomes 30X). PM3: Observed in trans with a pathogenic variant. PP3 donor +5 position predicted to disrupt splicing.

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