ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn)

gnomAD frequency: 0.06308  dbSNP: rs199953230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Services, National Institutes of Health, Clinical Center RCV000186507 SCV000222742 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2015-01-01 criteria provided, single submitter research
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202834 SCV000258144 benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791305 SCV005412050 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing BP4_strong

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