ClinVar Miner

Submissions for variant NM_022101.4(STEEP1):c.79del (p.Leu27fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003326329 SCV004032514 likely pathogenic Intellectual disability, X-linked 107 2023-05-10 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003326329 SCV004099241 likely pathogenic Intellectual disability, X-linked 107 2023-07-26 criteria provided, single submitter clinical testing PVS1, PM2

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