ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) (rs189243324)

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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,Partners HealthCare 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 (
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000214982 SCV000707544 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV000973606 SCV001121373 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000973606 SCV001144623 benign not provided 2019-08-05 criteria provided, single submitter clinical testing

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