ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.2625C>T (p.Ala875=)

gnomAD frequency: 0.00026  dbSNP: rs138327021
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875412 SCV001017732 benign Immunodeficiency 104 2024-01-31 criteria provided, single submitter clinical testing

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