ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5082G>C (p.Leu1694=)

dbSNP: rs182961574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720169 SCV000523027 likely benign not provided 2019-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648597 SCV000770417 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 2025-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000422694 SCV001879988 benign not specified 2021-03-22 criteria provided, single submitter clinical testing

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