ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met)

gnomAD frequency: 0.00463  dbSNP: rs34104386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000947212 SCV001093384 benign not provided 2025-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168293 SCV001330873 benign Upshaw-Schulman syndrome 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV001818937 SCV002072277 likely benign not specified 2017-11-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000947212 SCV005226052 likely benign not provided criteria provided, single submitter not provided

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