ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)

gnomAD frequency: 0.00082  dbSNP: rs200741156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591508 SCV000707811 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001416570 SCV001618753 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 2023-12-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662644 SCV001879647 benign not specified 2020-09-17 criteria provided, single submitter clinical testing

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