ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) (rs11547387)

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Total submissions: 5
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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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2020-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001310341 SCV001500095 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
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)

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