ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.15G>A (p.Ala5=)

gnomAD frequency: 0.00001  dbSNP: rs746701386
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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 RCV000642349 SCV000764018 likely benign Immunodeficiency 25 2017-11-20 criteria provided, single submitter clinical testing

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