ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr)

gnomAD frequency: 0.00002  dbSNP: rs772310694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997941 SCV001153715 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Department of Haematogenetics, ICMR National Institute of Immunohaematology RCV001027445 SCV001190005 pathogenic Methemoglobinemia, type I no assertion criteria provided research

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