ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10716C>T (p.Ile3572=)

gnomAD frequency: 0.00035  dbSNP: rs34365303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724943 SCV000332612 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000724943 SCV000721616 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing
Invitae RCV001087284 SCV001013450 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 2023-12-19 criteria provided, single submitter clinical testing

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