Submissions for variant NM_001040616.3(LINS1):c.1813A>G (p.Met605Val)

gnomAD frequency: 0.00249  dbSNP: rs141855950

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192437	SCV000247846	likely benign	not specified	2017-01-19	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000192437	SCV000257763	benign	not specified	2015-06-17	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000423169	SCV000511039	likely benign	not provided	2016-11-07	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000423169	SCV001027345	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000423169	SCV002497826	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	LINS1: BP4, BS2
Ambry Genetics	RCV002460974	SCV002755419	likely benign	Inborn genetic diseases	2018-09-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV000423169	SCV005216274	likely benign	not provided		criteria provided, single submitter	not provided