ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer)

dbSNP: rs387907343
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000034856 SCV000058460 pathogenic Cobblestone lissencephaly without muscular or ocular involvement 2013-03-07 no assertion criteria provided literature only

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