ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1369+5T>A

gnomAD frequency: 0.00001  dbSNP: rs147800268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225426 SCV001397707 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2024-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379856 SCV002700310 uncertain significance Inborn genetic diseases 2020-03-21 criteria provided, single submitter clinical testing The c.1369+5T>A intronic variant results from a T to A substitution 5 nucleotides after coding exon 14 in the MORC2 gene. This nucleotide position is 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 donor 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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