ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.1308T>C (p.Asn436=)

gnomAD frequency: 0.00002  dbSNP: rs779279106
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001457802 SCV001661608 likely benign Immunodeficiency 104 2023-08-28 criteria provided, single submitter clinical testing

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