ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.15283G>T (p.Val5095Phe)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003082932 SCV003482850 benign not provided 2024-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003082933 SCV003690665 benign Inborn genetic diseases 2022-10-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003349025 SCV004049413 benign Lissencephaly 9 with complex brainstem malformation 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003082932 SCV005434758 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing MACF1: BP4, BS1

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