Submissions for variant NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)

gnomAD frequency: 0.01000  dbSNP: rs41314453

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220213	SCV000269984	likely benign	not specified	2015-08-25	criteria provided, single submitter	clinical testing	p.Ala732Val in exon 18 of ADAMTS13: This variant is not expected to have clinica l significance because it has been identified 1.6% (1013/65004) of all chromosom es tested by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs41314453). While in vitro studies showed a decreased secretion of t he ADAMTS13 protein containing this variant, functional assays did not demonstra te decreased activity (Plaimauer 2006, Feng 2013).
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054940	SCV002443793	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000220213	SCV002760459	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485379	SCV002795893	likely benign	Upshaw-Schulman syndrome	2022-01-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002054940	SCV004699376	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ADAMTS13: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV002054940	SCV005226050	likely benign	not provided		criteria provided, single submitter	not provided