ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)

gnomAD frequency: 0.00009  dbSNP: rs559510708
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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) RCV000363730 SCV000339293 uncertain significance not provided 2016-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087000 SCV000770428 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 2023-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288675 SCV001475960 benign not specified 2020-02-25 criteria provided, single submitter clinical testing

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