ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp)

gnomAD frequency: 0.00374  dbSNP: rs142805337
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703484 SCV000514157 likely benign not provided 2019-09-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000440954 SCV000614669 likely benign not specified 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540405 SCV000650488 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 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703484 SCV004163460 benign not provided 2024-04-01 criteria provided, single submitter clinical testing PLEC: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001703484 SCV005222292 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004737468 SCV005365158 benign PLEC-related disorder 2024-09-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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