ClinVar Miner

Submissions for variant NM_016233.2(PADI3):c.856A>G (p.Thr286Ala)

gnomAD frequency: 0.01139  dbSNP: rs139426141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Dermatology Lab, Tel Aviv Sourasky Medical Center RCV000754631 SCV000863555 pathogenic Central centrifugal cicatricial alopecia 2018-07-01 criteria provided, single submitter research
Mendelics RCV002249449 SCV002518428 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000754631 SCV000887477 benign Central centrifugal cicatricial alopecia 2022-05-26 no assertion criteria provided literature only

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