ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.114C>T (p.Phe38=) (rs146210693)

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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 RCV000215575 SCV000270455 likely benign not specified 2015-11-27 criteria provided, single submitter clinical testing p.Phe38Phe in exon 03 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/10400 African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs146210693).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728432 SCV000856009 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Color Health, Inc RCV001182281 SCV001347679 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Invitae RCV001472723 SCV001676860 likely benign Hypertrophic cardiomyopathy 2020-01-31 criteria provided, single submitter clinical testing

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