Submissions for variant NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln)

gnomAD frequency: 0.00096  dbSNP: rs183328334

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001155052	SCV001316453	uncertain significance	Fraser syndrome 1	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001573104	SCV002383066	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573104	SCV004701345	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	FRAS1: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003918743	SCV004740947	likely benign	FRAS1-related condition	2020-07-22	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573104	SCV001798475	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573104	SCV001931744	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573104	SCV001964132	likely benign	not provided		no assertion criteria provided	clinical testing