Submissions for variant NM_176787.5(PIGN):c.1245T>C (p.Asp415=)

gnomAD frequency: 0.17246  dbSNP: rs13381627

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455284	SCV000540026	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Ambry Genetics	RCV002311760	SCV000846108	benign	Inborn genetic diseases	2016-03-19	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515708	SCV001723845	benign	Multiple congenital anomalies-hypotonia-seizures syndrome 1	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001613282	SCV001835197	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001613282	SCV005314664	benign	not provided		criteria provided, single submitter	not provided