ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.660G>T (p.Ser220=) (rs201835322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151180 SCV000345441 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151180 SCV000199002 benign not specified 2015-05-27 criteria provided, single submitter clinical testing p.Ser220Ser in exon 5 of MYH14: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.94% (26/2766) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs201835322).

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