Submissions for variant NM_001097577.3(ANG):c.208A>G (p.Ile70Val)

gnomAD frequency: 0.00073  dbSNP: rs121909541

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000335176	SCV000337060	uncertain significance	not provided	2015-11-12	criteria provided, single submitter	clinical testing
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	RCV000019705	SCV001251007	uncertain significance	Amyotrophic lateral sclerosis type 9	2020-03-31	criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV000019705	SCV001272127	likely benign	Amyotrophic lateral sclerosis type 9	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000335176	SCV001751941	likely benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29525178, 23665167, 23047679, 17900154, 18852347, 16501576, 23393617, 18087731, 22190368, 33875291)
Athena Diagnostics	RCV001659725	SCV001880141	likely benign	not specified	2021-01-11	criteria provided, single submitter	clinical testing
Invitae	RCV000335176	SCV002419676	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974847	SCV004793105	likely benign	ANG-related disorder	2022-12-16	criteria provided, single submitter	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).
OMIM	RCV000019705	SCV000040003	pathogenic	Amyotrophic lateral sclerosis type 9	2008-10-01	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000335176	SCV001929989	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000335176	SCV001974436	likely benign	not provided		no assertion criteria provided	clinical testing