ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.7473+10G>T

gnomAD frequency: 0.00054  dbSNP: rs181355572
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Total submissions: 4
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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 RCV000215201 SCV000270518 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing c.7473+10G>T in Intron 38 of MYO15A: This variant is not expected to have clinic al significance because it is not located within the conserved splice consensus sequence and has been identified in 0.1% (56/39754) of European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 81355572).
Illumina Laboratory Services, Illumina RCV000391777 SCV000401179 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 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 RCV000892677 SCV001036570 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000892677 SCV001789575 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing

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