ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His)

gnomAD frequency: 0.00002  dbSNP: rs782420127
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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
Athena Diagnostics RCV000712206 SCV000842644 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534505 SCV003022422 benign Spastic paraplegia 2024-01-19 criteria provided, single submitter clinical testing

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