ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.68-23C>T

gnomAD frequency: 0.27629  dbSNP: rs2269219
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Total submissions: 8
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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 RCV000000580 SCV001368183 likely benign Protoporphyria, erythropoietic, 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520174 SCV001729223 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000000580 SCV001933421 benign Protoporphyria, erythropoietic, 1 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001520174 SCV001950492 benign not provided 2018-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 8280787, 1729699, 27884173, 26789144)
Institute of Human Genetics, University Hospital Muenster RCV000000580 SCV002496158 uncertain significance Protoporphyria, erythropoietic, 1 2021-12-08 criteria provided, single submitter clinical testing ACMG categories: PS5,BS2,BP6,BP7
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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