ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4245A>G (p.Ser1415=) (rs779697115)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469201 SCV000557912 benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000603789 SCV000710917 benign not specified 2017-01-20 criteria provided, single submitter clinical testing p.Ser1415Ser in exon 30 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.5% (63/11578) o f Latino chromosomes including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148319461).

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