ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.1180-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990031 SCV004806241 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 2 2024-03-25 criteria provided, single submitter clinical testing

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