Submissions for variant NM_020458.4(TTC7A):c.1348G>A (p.Val450Met)

gnomAD frequency: 0.00136  dbSNP: rs114276698

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081049	SCV000754933	benign	Multiple gastrointestinal atresias	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000633672	SCV001152256	likely benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000633672	SCV001872873	likely benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28930861)
Breakthrough Genomics, Breakthrough Genomics	RCV000633672	SCV005263928	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000633672	SCV001797969	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000633672	SCV001928314	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000633672	SCV001975227	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003928056	SCV004738822	likely benign	TTC7A-related disorder	2024-02-07	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).