ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7356C>T (p.Ile2452=)

gnomAD frequency: 0.00191  dbSNP: rs199958797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520824 SCV001730027 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 2024-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438861 SCV004163489 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7
Athena Diagnostics RCV004998938 SCV005621578 benign not specified 2024-04-25 criteria provided, single submitter clinical testing

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