ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25120-16G>T

gnomAD frequency: 0.00648  dbSNP: rs139671151
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246556 SCV000315151 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000246556 SCV000519859 benign not specified 2016-09-06 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.
Invitae RCV001513611 SCV001721257 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512072 SCV002821773 benign not provided 2023-06-01 criteria provided, single submitter clinical testing SYNE1: BS1, BS2

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