ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1348-6T>A

gnomAD frequency: 0.00001  dbSNP: rs200130803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070362 SCV001235586 likely benign Charcot-Marie-Tooth disease axonal type 2P 2022-06-24 criteria provided, single submitter clinical testing
GeneDx RCV001776116 SCV002013169 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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