ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3002C>T (p.Pro1001Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004444424 SCV004927943 uncertain significance Inborn genetic diseases 2024-02-02 criteria provided, single submitter clinical testing The c.3002C>T (p.P1001L) alteration is located in exon 23 (coding exon 23) of the ADAMTS13 gene. This alteration results from a C to T substitution at nucleotide position 3002, causing the proline (P) at amino acid position 1001 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040667 SCV005678060 uncertain significance Upshaw-Schulman syndrome 2024-01-05 criteria provided, single submitter clinical testing

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