ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10060C>T (p.Pro3354Ser)

gnomAD frequency: 0.00296  dbSNP: rs140530599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001645764 SCV001858918 benign not provided 2018-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276848 SCV002566169 benign Ehlers-Danlos syndrome 2020-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405268 SCV002713961 benign Cardiovascular phenotype 2019-06-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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