Submissions for variant NM_002890.3(RASA1):c.209A>G (p.Glu70Gly)

gnomAD frequency: 0.00278  dbSNP: rs146525982

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000326908	SCV000458939	likely benign	Parkes Weber syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360391	SCV000458940	benign	Capillary malformation-arteriovenous malformation 1	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	RCV001087155	SCV000562864	benign	Capillary malformation-arteriovenous malformation syndrome	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757713	SCV000886039	benign	not provided	2018-02-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000757713	SCV001813811	likely benign	not provided	2018-08-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757713	SCV004159080	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	RASA1: BS1