ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.227-5T>C

gnomAD frequency: 0.00001  dbSNP: rs763643471
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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 RCV001071351 SCV001236648 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2024-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003283962 SCV003987674 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.227-5T>C intronic alteration consists of a T to C substitution 5 nucleotides after coding exon 4 in the MORC2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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