ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1224C>T (p.Gly408=)

gnomAD frequency: 0.00008  dbSNP: rs754338828
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 RCV000540837 SCV000655804 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2024-04-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424147 SCV004154876 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MORC2: BP4, BP7

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