ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.3126G>A (p.Pro1042=)

gnomAD frequency: 0.00002  dbSNP: rs369672739
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714530 SCV000845226 uncertain significance Thiel-Behnke corneal dystrophy 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714531 SCV000845227 uncertain significance Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060896 SCV002383373 benign not provided 2024-03-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965468 SCV004785218 likely benign TBCD-related disorder 2019-09-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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