ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)

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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 RCV002958728 SCV003278877 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 2022-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002958727 SCV003729470 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.2971C>T (p.R991C) alteration is located in exon 22 (coding exon 21) of the PDGFRB gene. This alteration results from a C to T substitution at nucleotide position 2971, causing the arginine (R) at amino acid position 991 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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