ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1107C>T (p.Ile369=)

gnomAD frequency: 0.00107  dbSNP: rs150248483
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000415960 SCV000114554 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000186667 SCV000171945 benign not specified 2013-07-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000186667 SCV000249072 uncertain significance not specified 2015-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000415960 SCV000493505 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085713 SCV000639933 benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311738 SCV000846172 likely benign Inborn genetic diseases 2016-08-23 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000415960 SCV001932430 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000415960 SCV001967970 likely benign not provided no assertion criteria provided clinical testing

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