ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1390+5G>A

dbSNP: rs1352808353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002548668 SCV003035305 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV002548668 SCV003805016 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004619679 SCV005116347 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-11 criteria provided, single submitter clinical testing The c.1390+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 9 in the FH gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001373130 SCV002085290 uncertain significance Fumarase deficiency 2021-10-11 no assertion criteria provided clinical testing

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