ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2304+9dup

dbSNP: rs35671527
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214823 SCV000269668 benign not specified 2014-11-26 criteria provided, single submitter clinical testing c.2715+13_2715+14insG in intron 19 of PLEC: This variant is not expected to have clinical significance because it has been identified in 39% (3115/8010) of Euro pean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS/; dbSNP rs35671527).
PreventionGenetics, part of Exact Sciences RCV000214823 SCV000304317 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078853 SCV000729978 benign not provided 2018-06-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789054 SCV002031393 benign Epidermolysis bullosa simplex with nail dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789051 SCV002031394 benign Epidermolysis bullosa simplex, Ogna type 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789050 SCV002031395 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789052 SCV002031396 benign Epidermolysis bullosa simplex 5C, with pyloric atresia 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789053 SCV002031398 benign Autosomal recessive limb-girdle muscular dystrophy type 2Q 2021-10-25 criteria provided, single submitter clinical testing
Invitae RCV002055102 SCV002355369 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 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000078853 SCV000110713 uncertain significance not provided 2013-03-04 no assertion criteria provided clinical testing

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