ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.1829+19T>A

gnomAD frequency: 0.01674  dbSNP: rs10919562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422946 SCV000514324 benign not specified 2016-03-03 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 RCV001523120 SCV001732780 benign Immunodeficiency 104 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713938 SCV005287958 benign not provided criteria provided, single submitter not provided

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