Submissions for variant NM_020458.4(TTC7A):c.1095G>T (p.Val365=)

gnomAD frequency: 0.00279  dbSNP: rs113844968

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536954	SCV000630302	benign	Multiple gastrointestinal atresias	2024-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001700202	SCV003916099	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TTC7A: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001700202	SCV005241241	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700202	SCV001926802	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700202	SCV001971694	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905345	SCV004722837	likely benign	TTC7A-related disorder	2019-06-27	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).