ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.510G>A (p.Leu170=) (rs34477144)

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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 RCV000036177 SCV000059829 benign not specified 2013-10-17 criteria provided, single submitter clinical testing Leu170Leu in exon 6 of MYO7A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.3% (23/8444) of Europ ean American chromosomes in a broad population by the NHLBI Exome sequencing pro ject (; dbSNP rs34477144) and was reported in 2 /664 (0.3%) of control chromosomes (Roux 2006).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036177 SCV000340588 likely benign not specified 2016-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000839307 SCV000981202 likely benign not provided 2018-03-23 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.

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