ClinVar Miner

Submissions for variant NM_139159.5(DPP9):c.499G>A (p.Gly167Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003224652 SCV003919737 pathogenic Hatipoglu immunodeficiency syndrome 2023-04-25 no assertion criteria provided literature only
Undiagnosed Diseases Network, NIH RCV003224652 SCV005368711 uncertain significance Hatipoglu immunodeficiency syndrome 2024-02-03 no assertion criteria provided clinical testing

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