ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) (rs111033231)

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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 RCV000036244 SCV000059896 benign not specified 2011-01-10 criteria provided, single submitter clinical testing Gly2214Ser in exon 49 of MYO7A: This variant is not expected to have clinical si gnificance because this amino acid is not conserved in other species. This amino acid is a serine in elephant, platypus, chicken, lizard, frog, and stickleback. In addition, this variant has also been identified by our laboratory in ~20% of Black probands.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224230 SCV000281146 benign not provided 2015-08-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330682 SCV000374533 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387468 SCV000374534 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295167 SCV000374535 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036244 SCV000729227 benign not specified 2017-10-23 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 RCV000224230 SCV001099210 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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