ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.510T>C (p.Asn170=)

gnomAD frequency: 0.39391  dbSNP: rs1142636
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082513 SCV000114555 benign not specified 2013-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713562 SCV000844186 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715263 SCV000846091 benign History of neurodevelopmental disorder 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510460 SCV001717496 benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000713562 SCV001829792 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510460 SCV002062301 benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815181 SCV002062302 benign Intellectual disability, X-linked 50 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713562 SCV005277712 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000082513 SCV000152830 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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