ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.133-7C>T (rs111033221)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036045 SCV000059697 benign not specified 2010-07-13 criteria provided, single submitter clinical testing This c.133-7C>T variant is not predicted to have clinical significance based on its occurrence at an equal frequency in cases and controls (Weston et al. 1996).
GeneDx RCV000036045 SCV000170584 benign not specified 2013-01-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000383502 SCV000374162 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291242 SCV000374163 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339300 SCV000374164 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036045 SCV000701632 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Invitae RCV000950439 SCV001096747 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000950439 SCV001144658 benign not provided 2018-08-31 criteria provided, single submitter clinical testing

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