ClinVar Miner

Submissions for variant NM_000140.4(FECH):c.68-23C>T (rs2269219)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415389 SCV000492646 likely benign Jaundice; Erythema 2016-01-25 no assertion criteria provided clinical testing
OMIM RCV000000580 SCV000020729 pathogenic Erythropoietic protoporphyria 1992-01-01 no assertion criteria provided literature only

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