ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2680C>A (p.Arg894=) (rs34805056)

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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 RCV000606759 SCV000731696 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing p.Arg894Arg in exon 22 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. It has been identified in 0.23% (50/21448) of African chromosomes including 1 homozygote by the Genome Aggregation Databas e (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs34805056).
Invitae RCV000896715 SCV001040822 benign not provided 2018-01-25 criteria provided, single submitter clinical testing

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