ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)

gnomAD frequency: 0.03189  dbSNP: rs1042512
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146247 SCV000193494 benign not specified 2013-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000146247 SCV000304114 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000463737 SCV000554211 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312643 SCV000847030 benign Inborn genetic diseases 2014-12-13 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.
Athena Diagnostics RCV000146247 SCV001476525 benign not specified 2020-02-18 criteria provided, single submitter clinical testing
GeneDx RCV001668292 SCV001890115 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847779 SCV002105417 benign Hereditary spastic paraplegia 2020-04-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668292 SCV005274971 benign not provided criteria provided, single submitter not provided

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