ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.1263C>T (p.Asp421=)

gnomAD frequency: 0.00010  dbSNP: rs368652879
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 RCV001393568 SCV001595235 likely benign Immunodeficiency 35 2023-09-01 criteria provided, single submitter clinical testing

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