ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)

gnomAD frequency: 0.00371  dbSNP: rs141756032
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000990768 SCV000639752 benign Granulomatous disease, chronic, X-linked 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595175 SCV000702803 benign not specified 2016-11-10 criteria provided, single submitter clinical testing
Mendelics RCV000990768 SCV001141803 likely benign Granulomatous disease, chronic, X-linked 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490664 SCV002798643 likely benign X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 2022-04-05 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059230 SCV000090759 not provided not provided no assertion provided not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000059230 SCV001799279 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000059230 SCV001931010 likely benign not provided no assertion criteria provided clinical testing

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