ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr)

gnomAD frequency: 0.00233  dbSNP: rs756508366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556196 SCV001777731 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501896 SCV002795270 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2022-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001556196 SCV004699670 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TNXB: PP2, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001556196 SCV005225570 likely benign not provided criteria provided, single submitter not provided

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