ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.666G>A (p.Lys222=)

gnomAD frequency: 0.00001  dbSNP: rs782615469
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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 RCV000996049 SCV001150495 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769348 SCV004612406 likely benign Spastic paraplegia 2022-12-29 criteria provided, single submitter clinical testing

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