ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) (rs111033209)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036222 SCV000059874 benign not specified 2010-12-14 criteria provided, single submitter clinical testing Lys2021Lys in exon 45 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue is not located near a splice junction and is found commonly in the Black population (5/28 = 18%).
GeneDx RCV000036222 SCV000170597 benign not specified 2013-04-04 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 RCV000259772 SCV000374506 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298298 SCV000374507 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355553 SCV000374508 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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