Submissions for variant NM_024642.5(GALNT12):c.909T>C (p.Asp303=)

gnomAD frequency: 0.00003  dbSNP: rs777028537

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV004024519	SCV000673510	likely benign	not specified	2017-02-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869136	SCV001010537	likely benign	not provided	2023-09-29	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000869136	SCV004219809	benign	not provided	2022-11-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752950	SCV005366318	likely benign	GALNT12-related disorder	2024-03-18	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).