ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12717C>T (p.Asn4239=)

gnomAD frequency: 0.00003  dbSNP: rs184192014
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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) RCV000354979 SCV000334908 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083736 SCV001017156 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 2025-01-08 criteria provided, single submitter clinical testing

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