ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1909-9T>C

gnomAD frequency: 0.00029  dbSNP: rs782702231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175387 SCV000226861 likely benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Invitae RCV000637057 SCV000758505 benign X-linked agammaglobulinemia with growth hormone deficiency 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000637057 SCV001329625 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2017-04-28 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.
Illumina Laboratory Services, Illumina RCV001167166 SCV001329626 benign X-linked agammaglobulinemia 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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