ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1547-4T>A

gnomAD frequency: 0.00030  dbSNP: rs200148275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174476 SCV000225784 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000549622 SCV000629390 benign Spastic paraplegia 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001530655 SCV001745542 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847807 SCV002105393 likely benign Hereditary spastic paraplegia 2021-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399626 SCV002706301 benign Inborn genetic diseases 2017-06-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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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