ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.93C>T (p.Cys31=) (rs35689081)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036252 SCV000059904 benign not specified 2009-12-09 criteria provided, single submitter clinical testing Cys31Cys in Exon 3 of MYO7A: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located near a s plice site, and has been identified in 5.5% (234/4260) of African American chrom osomes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs35689081).
PreventionGenetics,PreventionGenetics RCV000036252 SCV000303315 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357024 SCV000374156 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273950 SCV000374157 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331379 SCV000374158 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036252 SCV000730250 benign not specified 2017-05-09 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 RCV000960115 SCV001107063 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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