ClinVar Miner

Submissions for variant NM_138501.6(TECR):c.16-15G>A

gnomAD frequency: 0.00612  dbSNP: rs113855270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193362 SCV000249146 likely benign not specified 2015-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500596 SCV002809202 likely benign Intellectual disability, autosomal recessive 14 2022-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003417703 SCV004140280 benign not provided 2024-08-01 criteria provided, single submitter clinical testing TECR: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003417703 SCV005209570 likely benign not provided criteria provided, single submitter not provided

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