ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)

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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 RCV002971067 SCV003279979 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418672 SCV004116995 uncertain significance ADAMTS13-related disorder 2023-03-09 criteria provided, single submitter clinical testing The ADAMTS13 c.3739C>T variant is predicted to result in the amino acid substitution p.Arg1247Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-136321688-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005045111 SCV005678099 uncertain significance Upshaw-Schulman syndrome 2024-02-07 criteria provided, single submitter clinical testing

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