ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10338C>T (p.Ser3446=)

gnomAD frequency: 0.00361  dbSNP: rs62642461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703852 SCV000525343 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000576218 SCV000677071 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 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000426728 SCV001475955 benign not specified 2024-07-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533030 SCV004735941 benign PLEC-related disorder 2019-04-22 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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