ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1944C>T (p.Asp648=)

gnomAD frequency: 0.00134  dbSNP: rs189243324
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Total submissions: 5
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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 RCV000214982 SCV000270435 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Asp648Asp in exon 16 of MYH14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, and has been identi fied in 0.4% (14/3596) of African American chromosomes from a broad population b y the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Eurofins NTD LLC (GA) RCV000214982 SCV000707544 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV000973606 SCV001121373 benign not provided 2021-08-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000973606 SCV001144623 benign not provided 2019-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000973606 SCV001790132 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing

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