ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.45C>T (p.Asp15=)

gnomAD frequency: 0.51851  dbSNP: rs2589615
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Total submissions: 9
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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 RCV000041144 SCV000064835 benign not specified 2009-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041144 SCV000315751 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283802 SCV000480613 benign Autosomal recessive nonsyndromic hearing loss 7 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000341193 SCV000480614 benign Autosomal dominant nonsyndromic hearing loss 36 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000041144 SCV000717043 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000341193 SCV002098488 benign Autosomal dominant nonsyndromic hearing loss 36 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000283802 SCV002098489 benign Autosomal recessive nonsyndromic hearing loss 7 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054803 SCV002407237 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054803 SCV005266276 benign not provided criteria provided, single submitter not provided

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