ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) (rs199910006)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155158 SCV000204844 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing p.Gly132Ser in exon 2 of MYH14: This variant is not expected to have clinical si gnificance because it is not conserved in mammals, the wallaby has a serine (Ser ) at this position, and it has been identified in 0.2% (26/13784) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs199910006).
Illumina Clinical Services Laboratory,Illumina RCV001129343 SCV001288859 benign Deafness, autosomal dominant 4 2017-05-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285747 SCV001472227 benign none provided 2019-09-25 criteria provided, single submitter clinical testing

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