ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1663C>T (p.Leu555=)

gnomAD frequency: 0.00003  dbSNP: rs1476756357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000576209 SCV000677025 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 2023-06-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707350 SCV005222347 likely benign not provided criteria provided, single submitter not provided

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