ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=)

gnomAD frequency: 0.00075  dbSNP: rs375866139
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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 RCV000612525 SCV000712461 likely benign not specified 2016-11-19 criteria provided, single submitter clinical testing p.Arg1539Arg in exon 34 of MYH14: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. In addition, it has been identified in 0.3 7% (26/7080) of African chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs375866139).
Labcorp Genetics (formerly Invitae), Labcorp RCV000901084 SCV001045436 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000901084 SCV001820896 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905574 SCV004724217 likely benign MYH14-related disorder 2019-02-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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