ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.1048-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333868 SCV004041754 likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 2023-10-09 no assertion criteria provided clinical testing

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