Submissions for variant NC_000015.10:g.84817088C>T

gnomAD frequency: 0.00045  dbSNP: rs200966727

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001700873	SCV002438157	benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002458562	SCV002737504	benign	Cardiovascular phenotype	2019-09-13	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.
CeGaT Center for Human Genetics Tuebingen	RCV001700873	SCV004137536	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	ALPK3: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV001700873	SCV005292002	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700873	SCV001919526	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700873	SCV001973082	likely benign	not provided		no assertion criteria provided	clinical testing