ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.90G>C (p.Gln30His)

gnomAD frequency: 0.00001  dbSNP: rs754357906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003140255 SCV003828100 uncertain significance not provided 2021-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003140255 SCV004510649 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003154294 SCV003803009 uncertain significance Developmental delay no assertion criteria provided clinical testing

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