ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser)

gnomAD frequency: 0.00094  dbSNP: rs201419047
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319680 SCV000332564 likely benign not specified 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001705406 SCV000514165 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545914 SCV000650155 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
Ambry Genetics RCV002518827 SCV003680639 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.11692G>A (p.G3898S) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 11692, causing the glycine (G) at amino acid position 3898 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001705406 SCV004184751 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing PLEC: BP4

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