ClinVar Miner

Submissions for variant NM_000374.5(UROD):c.*70G>A

dbSNP: rs41269105
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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 RCV001100775 SCV001257314 uncertain significance Familial porphyria cutanea tarda 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV003405309 SCV004123762 benign not provided 2022-09-01 criteria provided, single submitter clinical testing UROD: BS1, BS2

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