ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=) (rs375866139)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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://; dbSNP rs375866139).
Invitae RCV000901084 SCV001045436 benign not provided 2018-07-10 criteria provided, single submitter clinical testing

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