ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) (rs267607138)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000757981 SCV000996460 pathogenic Goldblatt hypertension 2019-06-27 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Odontochondrodysplasia, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1, PM3.
OMIM RCV000005843 SCV000026025 pathogenic Achondrogenesis, type IA 2010-01-21 no assertion criteria provided literature only
OMIM RCV000757981 SCV000886530 pathogenic Goldblatt hypertension 2010-01-21 no assertion criteria provided literature only

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