Submissions for variant NM_003036.4(SKI):c.1851G>A (p.Glu617=)

gnomAD frequency: 0.00091  dbSNP: rs146789646

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179419	SCV000231665	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473994	SCV000560922	benign	Shprintzen-Goldberg syndrome	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001707551	SCV000726473	likely benign	not provided	2021-09-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408778	SCV002712156	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-07-18	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.
CeGaT Center for Human Genetics Tuebingen	RCV001707551	SCV002820989	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	SKI: BP4, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000179419	SCV004039069	benign	not specified	2023-08-11	criteria provided, single submitter	clinical testing