ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1242G>A (p.Pro414=)

gnomAD frequency: 0.00016  dbSNP: rs1013301590
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000942836 SCV001088771 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000942836 SCV001886893 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000942836 SCV004698335 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TYMP: BP4, BP7
Natera, Inc. RCV001272323 SCV001454198 likely benign Mitochondrial neurogastrointestinal encephalomyopathy 2020-06-09 no assertion criteria provided clinical testing

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