ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter)

dbSNP: rs1595387492
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853512 SCV000996461 pathogenic Achondrogenesis, type IA 2019-06-27 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Achondrogenesis 1A, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1, PS3-Moderate.

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