ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)

gnomAD frequency: 0.00026  dbSNP: rs201069314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300593 SCV000345044 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV001087007 SCV000770391 likely benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000300593 SCV001475961 likely benign not provided 2020-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000300593 SCV001804170 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function

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