ClinVar Miner

Submissions for variant NM_001770.6(CD19):c.323A>C (p.Gln108Pro)

gnomAD frequency: 0.00008  dbSNP: rs776903049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001117998 SCV001276244 uncertain significance Immunodeficiency, common variable, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002556506 SCV003489062 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing

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