Submissions for variant NM_004465.2(FGF10):c.620A>C (p.His207Pro)

gnomAD frequency: 0.00152  dbSNP: rs147715509

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000398550	SCV000343158	likely benign	not specified	2016-08-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335259	SCV000457703	benign	Congenital absence of salivary gland	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.
Invitae	RCV000960252	SCV001107211	likely benign	not provided	2023-12-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502145	SCV002807368	likely benign	Congenital absence of salivary gland; Levy-Hollister syndrome	2021-07-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967784	SCV004783028	likely benign	FGF10-related disorder	2019-08-16	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).