ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.663+36G>T

gnomAD frequency: 0.54802  dbSNP: rs2236017
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251038 SCV000302913 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000128533 SCV001944038 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815199 SCV002062265 benign Holt-Oram syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000128533 SCV005233731 benign not provided criteria provided, single submitter not provided
Molecular Genetics and Enzymology, National Research Centre RCV000128533 SCV000172177 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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