ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)

gnomAD frequency: 0.00051  dbSNP: rs199879193
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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) RCV000725108 SCV000334063 uncertain significance not provided 2018-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000725108 SCV000715537 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Invitae RCV001086383 SCV000770396 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 2024-01-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725108 SCV001145049 benign not provided 2018-12-28 criteria provided, single submitter clinical testing

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