ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.241-7A>G

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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 RCV003624925 SCV004538074 likely benign X-linked agammaglobulinemia with growth hormone deficiency 2023-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003919359 SCV004730002 likely benign BTK-related disorder 2024-02-13 no assertion criteria provided 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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