ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2268C>T (p.Thr756=)

gnomAD frequency: 0.00022  dbSNP: rs371267446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712726 SCV000700962 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712726 SCV000843248 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV001084463 SCV001005970 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 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712726 SCV004156390 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7

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