Submissions for variant NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly)

gnomAD frequency: 0.00402  dbSNP: rs117480926

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251457	SCV000311558	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000251457	SCV000331445	benign	not specified	2015-11-19	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000251457	SCV000864334	benign	not specified	2017-04-19	criteria provided, single submitter	clinical testing	BS1,BS2,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000960290	SCV001107254	benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000312738	SCV001140090	likely benign	Floating-Harbor syndrome	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000960290	SCV004146271	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	SRCAP: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000960290	SCV005215792	likely benign	not provided		criteria provided, single submitter	not provided