ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.5028T>C (p.Pro1676=)

gnomAD frequency: 0.00295  dbSNP: rs202056866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211416 SCV002498321 benign not provided 2025-01-01 criteria provided, single submitter clinical testing TANC2: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003926325 SCV004745831 benign TANC2-related disorder 2020-12-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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