Submissions for variant NM_000043.6(FAS):c.369G>A (p.Gln123=)

gnomAD frequency: 0.00529  dbSNP: rs28362318

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194021	SCV000247359	benign	not specified	2018-08-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000328893	SCV000365900	benign	Autoimmune lymphoproliferative syndrome type 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000328893	SCV000637306	benign	Autoimmune lymphoproliferative syndrome type 1	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000328893	SCV000743698	likely benign	Autoimmune lymphoproliferative syndrome type 1	2017-06-13	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000328893	SCV000745107	likely benign	Autoimmune lymphoproliferative syndrome type 1	2017-06-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000829368	SCV000971089	likely benign	not provided	2021-09-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000829368	SCV002497063	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FAS: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003917750	SCV004734342	benign	FAS-related disorder	2019-07-26	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics	RCV000829368	SCV005221888	likely benign	not provided		criteria provided, single submitter	not provided