ClinVar Miner

Submissions for variant NM_012387.3(PADI4):c.245T>C (p.Val82Ala)

gnomAD frequency: 0.55791  dbSNP: rs11203367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001249180 SCV001422432 association Rheumatoid arthritis; Abnormal pulmonary interstitial morphology 2020-02-01 no assertion criteria provided case-control
PreventionGenetics, part of Exact Sciences RCV003973163 SCV004795961 benign PADI4-related disorder 2019-10-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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