ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6408G>A (p.Glu2136=)

gnomAD frequency: 0.00144  dbSNP: rs200444977
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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 RCV000712751 SCV000843275 benign not provided 2017-10-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727729 SCV000855086 likely benign not specified 2018-02-27 criteria provided, single submitter clinical testing
Invitae RCV001087162 SCV001016812 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

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