ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) (rs104894059)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Oslo University Hospital RCV000008446 SCV001437551 pathogenic Saethre-Chotzen syndrome criteria provided, single submitter clinical testing
OMIM RCV000008446 SCV000028654 pathogenic Saethre-Chotzen syndrome 2001-12-15 no assertion criteria provided literature only

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