ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His)

gnomAD frequency: 0.00002  dbSNP: rs371794539
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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 RCV001145861 SCV001306563 uncertain significance Microcytic anemia 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.
Breakthrough Genomics, Breakthrough Genomics RCV004694903 SCV005194447 uncertain significance not provided criteria provided, single submitter not provided

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