Submissions for variant NM_016204.4(GDF2):c.750C>A (p.Asn250Lys)

gnomAD frequency: 0.00004  dbSNP: rs782092613

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000614335	SCV000719345	likely benign	not specified	2017-05-26	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	RCV002063257	SCV002443359	likely benign	Telangiectasia, hereditary hemorrhagic, type 5	2024-10-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002395569	SCV002671819	benign	Cardiovascular phenotype	2022-07-01	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine	RCV002285166	SCV002575032	benign	Pulmonary arterial hypertension	2022-09-26	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962764	SCV004782059	likely benign	GDF2-related disorder	2024-02-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).