ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4576A>G (p.Ile1526Val)

gnomAD frequency: 0.00145  dbSNP: rs34124242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503813 SCV000593540 benign not specified 2019-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150941 SCV001312036 uncertain significance Seckel syndrome 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). 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.
Invitae RCV001439802 SCV001642696 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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