ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys)

gnomAD frequency: 0.00002  dbSNP: rs200688598
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532220 SCV001747673 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750863 SCV004437733 benign Spastic paraplegia 2024-03-13 criteria provided, single submitter clinical testing

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