ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1791A>G (p.Pro597=)

gnomAD frequency: 0.00001  dbSNP: rs1340458277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508312 SCV000602902 likely benign not specified 2017-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857259 SCV002284653 likely benign X-linked agammaglobulinemia with growth hormone deficiency 2023-02-03 criteria provided, single submitter clinical testing

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