ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.3313A>G (p.Thr1105Ala)

gnomAD frequency: 0.00126  dbSNP: rs186746372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001813885 SCV002061126 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001813885 SCV004135517 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PTPRQ: BP4, BS1:Supporting

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