ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln)

gnomAD frequency: 0.00031  dbSNP: rs185418119
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
Invitae RCV001509675 SCV001716511 benign Spastic paraplegia 2024-01-18 criteria provided, single submitter clinical testing
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) RCV000736050 SCV000845751 likely benign Aganglionic megacolon no assertion criteria provided research

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