ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter)

dbSNP: rs121965014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700173 SCV005201991 pathogenic not provided 2023-09-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29375859, 18318771, 31898843, 18202104, 10874300)
OMIM RCV000000271 SCV000020415 pathogenic Methemoglobinemia type 2 2000-01-01 no assertion criteria provided literature only

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