ClinVar Miner

Submissions for variant NM_152906.7(TANGO2):c.419G>A (p.Arg140Gln)

gnomAD frequency: 0.00494  dbSNP: rs142442293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000443455 SCV000510898 likely benign not provided 2016-12-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000443455 SCV001111424 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000443455 SCV001825962 likely benign not provided 2021-04-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000443455 SCV004152138 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TANGO2: BP4, BS2

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