ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.287G>A (p.Arg96Gln)

gnomAD frequency: 0.10933  dbSNP: rs1041951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285620 SCV000409670 benign Protoporphyria, erythropoietic, 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521397 SCV001730735 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001521397 SCV001855796 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521397 SCV005314236 benign not provided criteria provided, single submitter not provided

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