ClinVar Miner

Submissions for variant NM_000732.6(CD3D):c.52C>A (p.Gln18Lys)

gnomAD frequency: 0.00084  dbSNP: rs141902449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651981 SCV000773839 likely benign Immunodeficiency 19 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000651981 SCV001527442 likely benign Immunodeficiency 19 2024-04-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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