ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)

gnomAD frequency: 0.00002  dbSNP: rs139314808
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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
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University RCV000993655 SCV001146787 pathogenic Cholestasis, progressive familial intrahepatic, 4 2019-10-15 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375126 SCV001572087 likely pathogenic Melnick-Fraser syndrome 2021-04-12 criteria provided, single submitter clinical testing PS1_Strong, PM2_Moderate

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