ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6456G>A (p.Ala2152=)

gnomAD frequency: 0.00086  dbSNP: rs201072292
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501881 SCV000596437 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000501881 SCV000701192 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876398 SCV001018965 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 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001662497 SCV001873673 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001662497 SCV004163503 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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