Submissions for variant NM_000103.4(CYP19A1):c.109T>C (p.Leu37=)

gnomAD frequency: 0.00628  dbSNP: rs58282176

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000909037	SCV000719948	benign	not provided	2020-04-15	criteria provided, single submitter	clinical testing
Invitae	RCV000909037	SCV001053825	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001120307	SCV001278784	benign	Aromatase deficiency	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences	RCV003927982	SCV004738690	likely benign	CYP19A1-related condition	2019-10-14	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).