ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.*116A>C

gnomAD frequency: 0.35507  dbSNP: rs700
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000407071 SCV000481382 benign X-linked agammaglobulinemia 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000289032 SCV000481383 benign X-linked agammaglobulinemia with growth hormone deficiency 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab RCV000407071 SCV001775119 benign X-linked agammaglobulinemia 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000289032 SCV001775120 benign X-linked agammaglobulinemia with growth hormone deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001597128 SCV001831128 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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