ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1275C>T (p.Thr425=)

gnomAD frequency: 0.00098  dbSNP: rs149221129
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Total submissions: 3
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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 RCV000037023 SCV000060679 likely benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.Thr425Thr in Exon 12 of MYH14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.25% (22/8486) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs149221129).
Invitae RCV000904822 SCV001049369 benign not provided 2023-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000904822 SCV001757503 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing

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