ClinVar Miner

Submissions for variant NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del)

dbSNP: rs10578999
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041234 SCV000064925 benign not specified 2012-03-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000041234 SCV000230463 benign not specified 2014-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041234 SCV000316141 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755405 SCV000605386 benign Autosomal recessive nonsyndromic hearing loss 6 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001668170 SCV001889389 benign not provided 2017-05-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27045574)
Genome-Nilou Lab RCV000755405 SCV002098545 benign Autosomal recessive nonsyndromic hearing loss 6 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001668170 SCV002338902 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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