ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.1710T>A (p.His570Gln)

gnomAD frequency: 0.01344  dbSNP: rs12136658
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127664 SCV000171243 benign not specified 2013-08-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000536624 SCV000638926 benign Immunodeficiency 104 2024-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698969 SCV005287955 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001698969 SCV001926543 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000127664 SCV001958051 benign not specified no assertion criteria provided clinical testing

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