ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe)

gnomAD frequency: 0.00430  dbSNP: rs141796889
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000265895 SCV000339274 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000265895 SCV000532743 benign not specified 2016-12-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000871123 SCV001012728 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512074 SCV002821776 benign not provided 2022-10-01 criteria provided, single submitter clinical testing SYNE1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004535357 SCV004754724 benign SYNE1-related disorder 2019-06-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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