ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.152C>G (p.Ala51Gly)

gnomAD frequency: 0.01317  dbSNP: rs187134574
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514698 SCV000171947 benign not provided 2018-11-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23871722, 21441247, 27884173)
Eurofins Ntd Llc (ga) RCV000128353 SCV000331875 benign not specified 2016-07-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514698 SCV000610962 benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990807 SCV000639941 benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2025-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000514698 SCV000844184 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716736 SCV000847579 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Subpopulation frequency in support of benign classification
Mendelics RCV000990807 SCV001141849 benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2019-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514698 SCV005277713 benign not provided criteria provided, single submitter not provided

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