ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.6006G>A (p.Leu2002=)

gnomAD frequency: 0.01597  dbSNP: rs61736828
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000965794 SCV001113071 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000965794 SCV001896145 benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271130 SCV002554327 benign Autosomal dominant nonsyndromic hearing loss 56 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002271130 SCV002803194 likely benign Autosomal dominant nonsyndromic hearing loss 56 2021-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000965794 SCV005271047 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003936004 SCV004747191 benign TNC-related disorder 2020-01-28 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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