ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2541C>T (p.Ser847=)

gnomAD frequency: 0.00025  dbSNP: rs374688294
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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) RCV000725461 SCV000700981 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000594610 SCV000716184 likely benign not specified 2017-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001459051 SCV001662884 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 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725461 SCV002821914 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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