ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.2041C>T (p.Pro681Ser)

gnomAD frequency: 0.00001  dbSNP: rs1433952909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224408 SCV001396600 uncertain significance Immunodeficiency 35 2021-08-24 criteria provided, single submitter clinical testing

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