ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2478C>T (p.Asp826=)

gnomAD frequency: 0.00080  dbSNP: rs202135215
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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) RCV000725198 SCV000334840 uncertain significance not provided 2015-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000725198 SCV000713996 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing
Invitae RCV001083079 SCV001012040 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 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725198 SCV001145071 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725198 SCV001248537 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7
Revvity Omics, Revvity RCV000725198 SCV003817879 likely benign not provided 2023-05-05 criteria provided, single submitter clinical testing

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