ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12027C>T (p.Arg4009=)

gnomAD frequency: 0.00011  dbSNP: rs762178584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698254 SCV000532093 likely benign not provided 2019-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550438 SCV000650161 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 2024-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000427871 SCV000701158 likely benign not specified 2017-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698254 SCV005222280 likely benign not provided criteria provided, single submitter not provided

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