ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.2949C>T (p.Asn983=)

gnomAD frequency: 0.00022  dbSNP: rs202065527
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871443 SCV001013105 likely benign Immunodeficiency 104 2024-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711336 SCV005261027 likely benign not provided criteria provided, single submitter not provided

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