ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.424-4G>A

gnomAD frequency: 0.00060  dbSNP: rs368869126
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727074 SCV000516053 likely benign not provided 2020-04-06 criteria provided, single submitter clinical testing
Invitae RCV001087300 SCV000557611 likely benign Progressive myoclonic epilepsy 2024-01-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727074 SCV000705397 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328931 SCV002628654 uncertain significance Inborn genetic diseases 2018-11-16 criteria provided, single submitter clinical testing The c.424-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 4 in the SCARB2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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