ClinVar Miner

Submissions for variant NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg)

dbSNP: rs878852983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000224057 SCV000292319 pathogenic Cataract 46 juvenile-onset 2015-11-01 criteria provided, single submitter research This variant co-segregates with juvenile cataracts in 39 family members (including 17 affected individuals [homozygous], 22 obligate carriers) across multiple sibships within a large Hutterite population. A potential association with sudden cardiac death is also observed.
OMIM RCV000224057 SCV000280597 pathogenic Cataract 46 juvenile-onset 2020-02-13 no assertion criteria provided literature only

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