Submissions for variant NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=)

gnomAD frequency: 0.00036  dbSNP: rs377369857

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000281353	SCV000342323	uncertain significance	not provided	2016-05-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000281353	SCV001017315	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001153259	SCV001314535	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.
CeGaT Center for Human Genetics Tuebingen	RCV000281353	SCV004152812	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	FRAS1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003920141	SCV004730659	benign	FRAS1-related disorder	2019-05-02	no assertion criteria provided	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).