ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)

gnomAD frequency: 0.00040  dbSNP: rs35821434
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726443 SCV000528117 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726443 SCV000701411 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV001087715 SCV001015913 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 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726443 SCV001145101 benign not provided 2018-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726443 SCV004163470 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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