ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) (rs111033230)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036237 SCV000059889 benign not specified 2009-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000036237 SCV000170599 benign not specified 2013-03-20 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 RCV000300484 SCV000374524 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357524 SCV000374525 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402816 SCV000374526 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992408 SCV001144674 benign not provided 2018-12-28 criteria provided, single submitter clinical testing

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