ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.*117C>T

gnomAD frequency: 0.02200  dbSNP: rs8099115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360670 SCV000409654 benign Protoporphyria, erythropoietic, 1 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717145 SCV005312642 benign not provided criteria provided, single submitter not provided

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