ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu)

gnomAD frequency: 0.00832  dbSNP: rs115943536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886749 SCV001030276 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168910 SCV001331549 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). 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.
Breakthrough Genomics, Breakthrough Genomics RCV000886749 SCV005317919 benign not provided criteria provided, single submitter not provided

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