ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter)

dbSNP: rs780625551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853510 SCV000996458 likely pathogenic Goldblatt syndrome 2019-06-27 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Odontochondrodysplasia, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1.
OMIM RCV000853510 SCV000886533 pathogenic Goldblatt syndrome 2021-04-12 no assertion criteria provided literature only

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