ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1127G>A (p.Arg376Gln)

gnomAD frequency: 0.00024  dbSNP: rs765007158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419757 SCV000252448 likely benign not provided 2020-08-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000419757 SCV000511408 likely benign not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000419757 SCV001031357 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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