ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=)

gnomAD frequency: 0.00361  dbSNP: rs147586507
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262802 SCV001440805 uncertain significance Lissencephaly 9 with complex brainstem malformation 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Invitae RCV002541597 SCV003278806 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001262802 SCV004049336 likely benign Lissencephaly 9 with complex brainstem malformation 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002541597 SCV005186615 uncertain significance not provided criteria provided, single submitter not provided

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