ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.5029A>T (p.Ile1677Leu)

gnomAD frequency: 0.47499  dbSNP: rs2104772
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639910 SCV001849580 benign not provided 2018-12-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16115819)
Genome-Nilou Lab RCV001838719 SCV002098563 benign Autosomal dominant nonsyndromic hearing loss 56 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639910 SCV005317914 benign not provided criteria provided, single submitter not provided

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