Submissions for variant NM_005629.4(SLC6A8):c.1496-5C>T

gnomAD frequency: 0.00491  dbSNP: rs200695210

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435284	SCV000523555	benign	not specified	2016-02-08	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	RCV001083862	SCV000561162	benign	Creatine transporter deficiency	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713353	SCV000843951	benign	not provided	2018-08-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313073	SCV000849342	benign	Inborn genetic diseases	2017-04-14	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000713353	SCV001930075	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000435284	SCV001974294	benign	not specified		no assertion criteria provided	clinical testing