ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12549C>T (p.Ile4183=)

gnomAD frequency: 0.00001  dbSNP: rs199512865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273018 SCV000336990 benign not specified 2015-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530178 SCV000650171 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 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001651311 SCV001871729 benign not provided 2020-08-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000273018 SCV001879972 benign not specified 2024-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001651311 SCV004701615 benign not provided 2023-12-01 criteria provided, single submitter clinical testing PLEC: BP4, BS1, BS2

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