ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6300G>A (p.Ala2100=)

gnomAD frequency: 0.00048  dbSNP: rs188154081
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513558 SCV000609327 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001088193 SCV000650367 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 2023-12-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591347 SCV000701163 likely benign not specified 2016-11-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000591347 SCV005204641 likely benign not specified 2024-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955567 SCV005471658 likely benign Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004722852 SCV005338135 likely benign PLEC-related disorder 2024-09-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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