Submissions for variant NM_030777.4(SLC2A10):c.306C>T (p.Val102=)

gnomAD frequency: 0.00003  dbSNP: rs530216827

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000842275	SCV000984281	likely benign	not provided	2019-11-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001395254	SCV001596957	likely benign	Arterial tortuosity syndrome	2025-01-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003987719	SCV004804151	likely benign	not specified	2024-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004029236	SCV005029166	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-02-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000842275	SCV001808723	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000842275	SCV001927542	likely benign	not provided		no assertion criteria provided	clinical testing