ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2305-10del

gnomAD frequency: 0.01228  dbSNP: rs142120912
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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) RCV000078854 SCV000110714 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000078854 SCV000304318 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078854 SCV000581696 benign not specified 2018-02-26 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 RCV000576172 SCV000677096 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 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000078854 SCV001476758 benign not specified 2020-06-25 criteria provided, single submitter clinical testing

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