ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.11157G>A (p.Val3719=)

gnomAD frequency: 0.00002  dbSNP: rs781902568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600069 SCV000727106 likely benign not specified 2018-02-06 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 RCV000964711 SCV001111945 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 2024-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992342 SCV004811032 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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