Submissions for variant NM_003036.4(SKI):c.216C>T (p.Pro72=)

gnomAD frequency: 0.00083  dbSNP: rs756778048

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724766	SCV000224394	uncertain significance	not provided	2015-06-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000225703	SCV000250664	benign	not specified	2015-03-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086944	SCV000261590	likely benign	Shprintzen-Goldberg syndrome	2024-01-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000225703	SCV000309360	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311028	SCV000319962	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-08	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001086944	SCV000605120	likely benign	Shprintzen-Goldberg syndrome	2023-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724766	SCV002496443	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SKI: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000724766	SCV001807215	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724766	SCV001930449	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000724766	SCV001958061	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724766	SCV001965658	likely benign	not provided		no assertion criteria provided	clinical testing