ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9918C>T (p.Ser3306=)

gnomAD frequency: 0.00004  dbSNP: rs112205689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608394 SCV000716052 likely benign not specified 2017-02-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000966549 SCV001113883 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 2023-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000608394 SCV005621153 benign not specified 2023-10-17 criteria provided, single submitter clinical testing

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