ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.5223G>A (p.Arg1741=)

gnomAD frequency: 0.00098  dbSNP: rs62638694
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894557 SCV001038546 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000894557 SCV002004799 likely benign not provided 2020-03-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271106 SCV002554361 benign Autosomal dominant nonsyndromic hearing loss 56 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000894557 SCV005225441 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003968173 SCV004791701 benign TNC-related disorder 2019-07-06 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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