ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.895-10G>A

gnomAD frequency: 0.00010  dbSNP: rs370812397
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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 RCV000405337 SCV000481388 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000314569 SCV000481389 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000314569 SCV001720164 benign X-linked agammaglobulinemia with growth hormone deficiency 2024-01-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821126 SCV002071843 benign not specified 2021-08-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950309 SCV004757388 likely benign BTK-related disorder 2019-02-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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