ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.179A>C (p.Lys60Thr)

gnomAD frequency: 0.00354  dbSNP: rs11547387
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239262 SCV000296871 likely benign not specified 2015-11-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000239262 SCV000333565 benign not specified 2015-09-11 criteria provided, single submitter clinical testing
Invitae RCV000558236 SCV000641914 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310341 SCV001500095 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing CYBA: BP4, BS2
GeneDx RCV001310341 SCV001778805 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10910929, 27048830, 29454792, 20167518)
PreventionGenetics, part of Exact Sciences RCV003930018 SCV004746112 likely benign CYBA-related condition 2020-02-25 criteria provided, single submitter 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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