ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4094G>A (p.Ser1365Asn)

gnomAD frequency: 0.00134  dbSNP: rs202225655
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Total submissions: 7
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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 RCV000151192 SCV000199023 benign not specified 2016-10-04 criteria provided, single submitter clinical testing p.Ser1365Asn in exon 31 of MYH14: This variant is not expected to have clinical significance because it has been identified in 1.9% (73/3926) of Finnish chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs202225655).
Illumina Laboratory Services, Illumina RCV000290132 SCV000414433 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000894239 SCV001038212 benign not provided 2023-05-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894239 SCV004140521 benign not provided 2022-06-01 criteria provided, single submitter clinical testing MYH14: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000894239 SCV005205860 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000894239 SCV001924305 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000894239 SCV001973165 likely benign not provided no assertion criteria provided clinical testing

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