ClinVar Miner

Submissions for variant NM_001080421.3(UNC13A):c.4197+7C>T

gnomAD frequency: 0.01751  dbSNP: rs148883310
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UM ALS/MND Lab, University Of Malta RCV001260223 SCV001437192 uncertain significance Amyotrophic lateral sclerosis 2020-09-09 criteria provided, single submitter case-control
Breakthrough Genomics, Breakthrough Genomics RCV004692366 SCV005194724 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003963162 SCV004789912 benign UNC13A-related disorder 2019-05-15 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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