ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.462C>T (p.Thr154=)

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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 RCV002638776 SCV002978512 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2024-07-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003427492 SCV004154878 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MORC2: BP4, BP7

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