ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.483T>C (p.Asn161=)

gnomAD frequency: 0.00002  dbSNP: rs140735161
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471576 SCV001675685 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2023-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005243563 SCV005891936 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing MORC2: BP4, BP7

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