ClinVar Miner

Submissions for variant NM_001383.6(DPH1):c.749+39G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV003493391 SCV004242215 uncertain significance Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 2022-11-07 no assertion criteria provided clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV003493391 SCV004808387 pathogenic Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 2024-04-01 no assertion criteria provided clinical testing

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