ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1329+15C>T

gnomAD frequency: 0.00227  dbSNP: rs200176028
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Total submissions: 6
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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 RCV000155163 SCV000204849 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 1329+15C>T in Intron 12 of MYH14: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 0.4% (24/6830) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS).
Illumina Laboratory Services, Illumina RCV001129450 SCV001288976 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056074 SCV002410485 benign not provided 2025-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498749 SCV002808365 benign Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-07-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002056074 SCV004140507 benign not provided 2022-06-01 criteria provided, single submitter clinical testing MYH14: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002056074 SCV005205845 likely benign not provided criteria provided, single submitter not provided

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