ClinVar Miner

Submissions for variant NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His)

gnomAD frequency: 0.00001  dbSNP: rs730882163
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Total submissions: 2
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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 RCV000162044 SCV005016548 uncertain significance Lethal congenital contracture syndrome 6 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000162044 SCV000211989 pathogenic Lethal congenital contracture syndrome 6 2014-12-15 no assertion criteria provided literature only

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