ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) (rs397516328)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036226 SCV000059878 uncertain significance not specified 2011-09-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg2070Gln vari ant in MYO7A has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, hom ology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In summary, the clinical significance of this variant cannot be d etermined at this time.

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