ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=)

gnomAD frequency: 0.00953  dbSNP: rs35082161
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248054 SCV000313140 benign not specified criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000758245 SCV000886885 likely benign Dyskeratosis congenita, autosomal recessive 3 2019-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971646 SCV001119302 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000758245 SCV001284479 benign Dyskeratosis congenita, autosomal recessive 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.
GeneDx RCV000971646 SCV001786474 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000971646 SCV005218672 likely benign not provided criteria provided, single submitter not provided

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