Submissions for variant NM_001199799.2(ILDR1):c.792G>A (p.Pro264=)

gnomAD frequency: 0.00009  dbSNP: rs186672543

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000594705	SCV000702940	uncertain significance	not provided	2016-12-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000594705	SCV001044926	benign	not provided	2021-11-10	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV001449841	SCV001653143	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Pro264Pro in exon 7 of ILDR1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.32% (27/8562) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs186672543).
PreventionGenetics, part of Exact Sciences	RCV004755978	SCV005344423	likely benign	ILDR1-related disorder	2024-09-20	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).