ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.3031-4C>G

gnomAD frequency: 0.00001  dbSNP: rs373542143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001858590 SCV002167325 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2023-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434227 SCV002754356 uncertain significance Inborn genetic diseases 2019-11-21 criteria provided, single submitter clinical testing The c.3031-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 26 in the MORC2 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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