ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.1026C>T (p.Tyr342=)

gnomAD frequency: 0.00515  dbSNP: rs35201683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233888 SCV000284826 benign Hereditary hemochromatosis 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001152295 SCV001313507 uncertain significance Hemochromatosis type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001709519 SCV001937385 benign not provided 2018-11-28 criteria provided, single submitter clinical testing

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