ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.21795G>A (p.Arg7265=)

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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 RCV002914743 SCV003266679 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002914743 SCV004701524 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MACF1: BP4, BS1

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