ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val)

gnomAD frequency: 0.00081  dbSNP: rs201959200
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177605 SCV000334218 benign not specified 2015-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000177605 SCV000518337 benign not specified 2016-06-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000555665 SCV000650369 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 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492777 SCV002800448 likely benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 2021-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436972 SCV004163506 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing PLEC: BS1

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