ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr)

gnomAD frequency: 0.00401  dbSNP: rs62641756
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078891 SCV000334816 benign not specified 2015-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001711187 SCV000526791 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000078891 SCV000614652 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000542065 SCV000650388 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 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711187 SCV004163500 benign not provided 2023-08-01 criteria provided, single submitter clinical testing PLEC: BP4, BS1, BS2

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