ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1980G>A (p.Arg660=)

gnomAD frequency: 0.00006  dbSNP: rs147805183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607513 SCV000717426 likely benign not specified 2017-03-24 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 RCV000649925 SCV000771761 likely benign Charcot-Marie-Tooth disease axonal type 2P 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420599 SCV002722919 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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