ClinVar Miner

Submissions for variant NM_001012515.3(FECH):c.68-23C>T (rs2269219)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000000580 SCV001140909 benign Protoporphyria, erythropoietic, 1 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197440 SCV001368183 likely benign Jaundice; Erythema; Increased urinary porphobilinogen 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. This variant was detected in heterozygous state.
OMIM RCV000000580 SCV000020729 pathogenic Protoporphyria, erythropoietic, 1 1992-01-01 no assertion criteria provided literature only
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415389 SCV000492646 likely benign Jaundice; Erythema 2016-01-25 no assertion criteria provided clinical testing

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