ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4539+10C>T

gnomAD frequency: 0.00003  dbSNP: rs561531825
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Total submissions: 3
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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 RCV000151199 SCV000199030 likely benign not specified 2017-02-16 criteria provided, single submitter clinical testing c.4939+10C>T in Intron 33 of MYH14: This variant is not expected to have clinica l significance because it is not located within the conserved region of the spli ce consensus sequence and is not predicted to alter splicing. This variant has been identified in 7/ 8362 of East Asian chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs561531825).
Illumina Laboratory Services, Illumina RCV000341314 SCV000414437 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV003736606 SCV004556972 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing

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