ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1786+16G>A

gnomAD frequency: 0.00349  dbSNP: rs36220948
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127923 SCV002449188 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494402 SCV002802998 likely benign Upshaw-Schulman syndrome 2021-09-28 criteria provided, single submitter clinical testing

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