ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

gnomAD frequency: 0.00120  dbSNP: rs188739870
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177694 SCV000336369 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512985 SCV000609325 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000512985 SCV000614664 benign not provided 2018-12-29 criteria provided, single submitter clinical testing
Invitae RCV001082161 SCV000650469 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 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000512985 SCV000723250 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000512985 SCV001742997 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000512985 SCV001927963 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000512985 SCV001975597 likely benign not provided no assertion criteria provided clinical testing

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