ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)

dbSNP: rs556548077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269098 SCV000414447 likely benign Autosomal dominant nonsyndromic hearing loss 4A 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626115 SCV000746742 uncertain significance Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2017-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000903989 SCV001048482 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing

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