ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1941G>T (p.Gly647=)

gnomAD frequency: 0.00439  dbSNP: rs111760099
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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 RCV000636251 SCV000757689 benign Hereditary hemochromatosis 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164799 SCV001326949 benign Hemochromatosis type 3 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV004712914 SCV005267706 benign not provided criteria provided, single submitter not provided

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