ClinVar Miner

Submissions for variant NM_006953.4(UPK3A):c.*107T>C

gnomAD frequency: 0.00160  dbSNP: rs558490093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000000922 SCV001305245 uncertain significance Renal hypodysplasia/aplasia 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.
OMIM RCV000000922 SCV000021072 uncertain significance Renal hypodysplasia/aplasia 1 2005-07-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003934789 SCV004747576 likely benign UPK3A-related disorder 2020-10-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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