ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5991G>A (p.Thr1997=)

gnomAD frequency: 0.00084  dbSNP: rs181567755
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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 RCV000151209 SCV000199044 benign not specified 2016-10-25 criteria provided, single submitter clinical testing p.Thr1997Thr in exon 43 of MYH14: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.5% (34/6448) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs181567755).
GeneDx RCV001555198 SCV001776572 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing
Invitae RCV001555198 SCV003269671 benign not provided 2024-01-08 criteria provided, single submitter clinical testing

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