ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.3489G>A (p.Glu1163=)

gnomAD frequency: 0.00003  dbSNP: rs368842030
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 RCV000908441 SCV001053205 likely benign Immunodeficiency 35 2024-10-29 criteria provided, single submitter clinical testing

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