ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) (rs111033504)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036192 SCV000059844 benign not specified 2012-03-20 criteria provided, single submitter clinical testing Leu1866Leu in exon 40 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 2.3% (82/3500) of Afric an American chromosomes in a broad population by the NHLBI Exome sequencing proj ect (; dbSNP rs111033504) and is reported as be nign in one publication (Jaijo 2009).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036192 SCV000860739 likely benign not specified 2018-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000828195 SCV000969878 likely benign not provided 2018-04-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000828195 SCV001118391 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000828195 SCV001148378 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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