ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.462C>T (p.Asp154=)

gnomAD frequency: 0.00008  dbSNP: rs181656780
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 RCV000642347 SCV000764016 likely benign Immunodeficiency 25 2017-12-19 criteria provided, single submitter clinical testing

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