ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.993G>A (p.Thr331=)

gnomAD frequency: 0.00009  dbSNP: rs368674859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001531108 SCV000720748 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing
Invitae RCV001400055 SCV001601856 likely benign Charcot-Marie-Tooth disease axonal type 2P 2023-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531108 SCV001746079 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing LRSAM1: BP4, BP7
Ambry Genetics RCV002384337 SCV002688847 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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