ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.1916G>T (p.Gly639Val)

gnomAD frequency: 0.00556  dbSNP: rs139995582
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000960817 SCV001107841 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960817 SCV002585036 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MACF1: BS2
Genome-Nilou Lab RCV003346230 SCV004050050 benign Lissencephaly 9 with complex brainstem malformation 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000960817 SCV005285689 benign not provided criteria provided, single submitter not provided

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