ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.946-6T>C

gnomAD frequency: 0.00001  dbSNP: rs200168705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078831 SCV000110691 uncertain significance not provided 2013-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078660 SCV001121649 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 2024-09-15 criteria provided, single submitter clinical testing

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