ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.13005C>T (p.Ala4335=)

gnomAD frequency: 0.00001  dbSNP: rs757589473
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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) RCV000728221 SCV000855767 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084185 SCV001107742 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 2022-08-16 criteria provided, single submitter clinical testing

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