ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) (rs149540339)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000347054 SCV000477222 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858678 SCV000547855 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000610078 SCV000713990 likely benign not specified 2017-04-06 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 RCV000476861 SCV000607242 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.

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