ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) (rs559356437)

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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 RCV000610642 SCV000731926 likely benign not specified 2017-09-28 criteria provided, single submitter clinical testing p.Ala1179Ala in exon 28 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 0.13% (43/34068) of Latino chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs559356437).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757524 SCV000885778 benign not provided 2018-04-26 criteria provided, single submitter clinical testing

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