ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6021G>A (p.Ala2007=)

gnomAD frequency: 0.00053  dbSNP: rs200338935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517044 SCV000614644 benign not specified 2017-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000517044 SCV000721472 likely benign not specified 2017-07-28 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 RCV000648609 SCV000770429 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 2023-12-18 criteria provided, single submitter clinical testing

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