ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1701A>G (p.Glu567=)

gnomAD frequency: 0.00032  dbSNP: rs146681416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898782 SCV001043006 benign X-linked agammaglobulinemia with growth hormone deficiency 2024-01-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702568 SCV001932327 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702568 SCV001966688 likely benign not provided no assertion criteria provided clinical testing

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