ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2352C>T (p.Asp784=)

gnomAD frequency: 0.00001  dbSNP: rs374524410
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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 RCV002918039 SCV003252401 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2024-04-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003427524 SCV004154873 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing MORC2: BP4, BP7

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