ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser)

dbSNP: rs137852523
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010676 SCV000030902 pathogenic MASA syndrome 1995-07-01 no assertion criteria provided literature only

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