ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2458-8C>T

gnomAD frequency: 0.00159  dbSNP: rs201818691
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712728 SCV000332335 uncertain significance not provided 2015-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000712728 SCV000532265 likely benign not provided 2019-06-28 criteria provided, single submitter clinical testing
Invitae RCV001080184 SCV000677097 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
Athena Diagnostics Inc RCV000712728 SCV000843250 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing

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