ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3695G>A (p.Ser1232Asn)

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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 RCV004976240 SCV005560122 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.3863G>A (p.S1288N) alteration is located in exon 27 (coding exon 27) of the ADAMTS13 gene. This alteration results from a G to A substitution at nucleotide position 3863, causing the serine (S) at amino acid position 1288 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040829 SCV005678107 uncertain significance Upshaw-Schulman syndrome 2024-04-10 criteria provided, single submitter clinical testing

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