ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)

gnomAD frequency: 0.20376  dbSNP: rs520805
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Total submissions: 10
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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 RCV000038487 SCV000062165 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val932Ala in Exon 09 of TECTA: This variant is not expected to have clinical sig nificance because it has been identified in 21.0% (1477/7020) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs520805).
Eurofins Ntd Llc (ga) RCV000038487 SCV000233091 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000038487 SCV000311052 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000337237 SCV000368133 likely benign Autosomal recessive nonsyndromic hearing loss 21 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000400241 SCV000368134 likely benign Autosomal dominant nonsyndromic hearing loss 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001650873 SCV001870773 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000400241 SCV002098910 benign Autosomal dominant nonsyndromic hearing loss 12 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000337237 SCV002098921 benign Autosomal recessive nonsyndromic hearing loss 21 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001650873 SCV002388868 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650873 SCV005214243 likely benign not provided criteria provided, single submitter not provided

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