ClinVar Miner

Submissions for variant NM_022458.4(LMBR1):c.423+4919A>G

dbSNP: rs2133321113
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719711 SCV005325650 likely pathogenic not provided 2023-12-10 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32169219, 24965254, 27264804, 18156157, 31395865, 14727139)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796040 SCV005418572 likely pathogenic Acheiropodia; Laurin-Sandrow syndrome; Polydactyly of a triphalangeal thumb; Syndactyly type 4; Tibia, hypoplasia or aplasia of, with polydactyly; Triphalangeal thumb-polysyndactyly syndrome criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PP1+PP4+PM1
OMIM RCV003991466 SCV004801323 pathogenic Tibia, hypoplasia or aplasia of, with polydactyly 2014-08-01 no assertion criteria provided literature only

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