ClinVar Miner

Submissions for variant NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)

dbSNP: rs769917456
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251178 SCV001426528 likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001251178 SCV001448274 pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2020-10-04 criteria provided, single submitter clinical testing

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