ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.390C>T (p.Thr130=)

gnomAD frequency: 0.00001  dbSNP: rs764334695
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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 RCV001410460 SCV001612508 likely benign Immunodeficiency 35 2024-09-01 criteria provided, single submitter clinical testing

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