ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002734910 SCV003000170 likely benign Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2023-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958719 SCV005471157 uncertain significance Inborn genetic diseases 2024-08-15 criteria provided, single submitter clinical testing The c.2122C>T (p.R708C) alteration is located in exon 15 (coding exon 14) of the PDGFRB gene. This alteration results from a C to T substitution at nucleotide position 2122, causing the arginine (R) at amino acid position 708 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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