ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.707G>A (p.Arg236Gln)

gnomAD frequency: 0.00036  dbSNP: rs147036606
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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 RCV000556448 SCV000634732 benign X-linked agammaglobulinemia with growth hormone deficiency 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714054 SCV005276310 benign not provided criteria provided, single submitter not provided

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