ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.19762-13A>G

gnomAD frequency: 0.15970  dbSNP: rs2296173
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534740 SCV001751684 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001534740 SCV002434582 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346605 SCV004049535 benign Lissencephaly 9 with complex brainstem malformation 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001534740 SCV005287668 benign not provided criteria provided, single submitter not provided

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