ClinVar Miner

Submissions for variant NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer)

dbSNP: rs769917456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001283771 SCV000026188 pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1999-11-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283771 SCV001469143 pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2020-09-10 no assertion criteria provided clinical testing

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