ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.-5G>A

gnomAD frequency: 0.00002  dbSNP: rs1220994912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273366 SCV002558070 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing Located in the 5 untranslated region (UTR); in the absence of functional studies, the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; No regulatory variants in the TGFBR1 gene have been reported in HGMD in association with TGFBR1-related disorders (HGMD)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277102 SCV002566144 uncertain significance Ehlers-Danlos syndrome 2019-11-01 criteria provided, single submitter clinical testing

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