ClinVar Miner

Submissions for variant NM_001366285.2(TBXT):c.530G>A (p.Gly177Asp)

gnomAD frequency: 0.42338  dbSNP: rs2305089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001641636 SCV001855873 benign not provided 2018-12-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33536423, 23064415, 24232574, 24990759, 9202145)
Genome-Nilou Lab RCV001815598 SCV002062178 benign Microcephaly-thin corpus callosum-intellectual disability syndrome 2021-07-15 criteria provided, single submitter clinical testing

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