ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.1654C>T (p.Arg552Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002696566 SCV003536064 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.1654C>T (p.R552C) alteration is located in exon 14 (coding exon 13) of the LAMB3 gene. This alteration results from a C to T substitution at nucleotide position 1654, causing the arginine (R) at amino acid position 552 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004820931 SCV005442260 uncertain significance Junctional epidermolysis bullosa, non-Herlitz type 2024-12-19 criteria provided, single submitter clinical testing

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