ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln)

dbSNP: rs201430180
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153739 SCV000334432 benign not specified 2015-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000488034 SCV000519570 likely benign not provided 2020-07-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29334134, 29050564)
CeGaT Center for Human Genetics Tuebingen RCV000488034 SCV000575576 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PLEC: BS2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000488034 SCV000610628 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000488034 SCV000614637 benign not provided 2018-10-22 criteria provided, single submitter clinical testing
Invitae RCV001081838 SCV000650291 likely 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 2024-01-27 criteria provided, single submitter clinical testing

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