Submissions for variant NM_000102.4(CYP17A1):c.195G>T (p.Ser65=)

gnomAD frequency: 0.40112  dbSNP: rs6163

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000366126	SCV000360144	benign	Deficiency of steroid 17-alpha-monooxygenase	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.
Athena Diagnostics	RCV000711365	SCV000841727	benign	not provided	2017-11-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711365	SCV001732289	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000366126	SCV001750358	benign	Deficiency of steroid 17-alpha-monooxygenase	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000711365	SCV001858540	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711365	SCV005322380	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000366126	SCV001459688	benign	Deficiency of steroid 17-alpha-monooxygenase	2020-09-16	no assertion criteria provided	clinical testing