ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) (rs56380300)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000423531 SCV000511271 likely benign not provided 2017-01-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238735 SCV000297370 benign not specified 2015-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000238735 SCV000513514 likely benign not specified 2017-12-07 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.
GenomeConnect, ClinGen RCV000230726 SCV000607058 not provided Charcot-Marie-Tooth disease type 2P no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000389737 SCV000477217 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230726 SCV000291322 benign Charcot-Marie-Tooth disease type 2P 2018-01-08 criteria provided, single submitter clinical testing

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