Submissions for variant NM_001114753.3(ENG):c.954G>A (p.Pro318=)

gnomAD frequency: 0.00019  dbSNP: rs149590262

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000633162	SCV000754376	likely benign	Hereditary hemorrhagic telangiectasia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169486	SCV001332189	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV001815357	SCV002063254	likely benign	not provided	2021-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377365	SCV002690750	likely benign	Cardiovascular phenotype	2022-03-06	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.