ClinVar Miner

Submissions for variant NM_005807.6(PRG4):c.1935del (p.Glu646fs)

dbSNP: rs2102025845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784879 SCV002019516 pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2019-05-16 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001784879 SCV002507145 pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2022-05-09 criteria provided, single submitter clinical testing

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