Submissions for variant NM_000141.5(FGFR2):c.294G>A (p.Thr98=)

gnomAD frequency: 0.00776  dbSNP: rs1047101

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176990	SCV000228790	benign	not specified	2014-10-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176990	SCV000302601	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000330827	SCV000360985	likely benign	Beare-Stevenson cutis gyrata syndrome	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000387738	SCV000360986	likely benign	Isolated coronal synostosis	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000296060	SCV000360987	likely benign	Crouzon syndrome	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000325276	SCV000360988	likely benign	Saethre-Chotzen syndrome	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000347878	SCV000360991	likely benign	Craniosynostosis syndrome	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080339	SCV000659615	benign	FGFR2-related craniosynostosis	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000555739	SCV001143919	benign	not provided	2019-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000555739	SCV001841818	benign	not provided	2018-09-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000176990	SCV002071045	benign	not specified	2019-05-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000555739	SCV004010025	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	FGFR2: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000555739	SCV005220268	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000176990	SCV001809557	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000555739	SCV001959632	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000176990	SCV001971450	benign	not specified		no assertion criteria provided	clinical testing