ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.444C>T (p.Ala148=)

gnomAD frequency: 0.00009  dbSNP: rs773084349
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 RCV002117224 SCV002391757 likely benign Immunodeficiency 25 2022-11-08 criteria provided, single submitter clinical testing

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