ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)

gnomAD frequency: 0.00016  dbSNP: rs373952777
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415816 SCV000493364 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000415816 SCV000533802 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000415816 SCV000843266 likely benign not provided 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV001088925 SCV001018734 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 2023-11-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000415816 SCV003817357 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing

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