ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.2461G>A (p.Gly821Ser) (rs267607116)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000587331 SCV000693902 pathogenic Joubert syndrome 6 2017-06-26 criteria provided, single submitter research PS1: 1 Turkish consanguineous family with 3 affected sibs homozygous for this missense variant. See OMIM entry for details. PM2: Not present in gnomAD - good coverage (60X coverage in exomes and 30X in genomes). PM5: 2 patients reported in 1 article (PMID: 19508969) with different missense variant at this position. PP1_supporting: 1 family, segregation in 3 affected for AR condition.
OMIM RCV000001450 SCV000021600 pathogenic Nephronophthisis 11 2009-10-01 no assertion criteria provided literature only

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