ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)

dbSNP: rs1553275034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002472954 SCV002770221 likely pathogenic not provided 2022-06-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 24 amino acids are replaced with 7 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23958762)
OMIM RCV000157635 SCV000207442 pathogenic Amelogenesis imperfecta type 1A 2013-10-01 no assertion criteria provided literature only

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