ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.*1508G>A

gnomAD frequency: 0.00048  dbSNP: rs540286571
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000344788 SCV000409625 likely benign Protoporphyria, erythropoietic, 1 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703744 SCV005208934 likely benign not provided criteria provided, single submitter not provided

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