ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.805+39A>G

gnomAD frequency: 0.02404  dbSNP: rs11568778
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246634 SCV000310515 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000246634 SCV000605370 benign not specified 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001636783 SCV001852644 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316412 SCV004015610 benign Multiple self-healing squamous epithelioma 2023-07-07 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000246634 SCV004234136 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 20% of patients studied by a panel of primary immunodeficiencies. Number of patients: 18. Only high quality variants are reported.

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