ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4649T>C (p.Leu1550Pro)

gnomAD frequency: 0.00008  dbSNP: rs756335435
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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 RCV000815947 SCV000956428 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534880 SCV003735680 likely benign Inborn genetic diseases 2022-03-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics RCV004705783 SCV005227253 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004705783 SCV005434447 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing GLI3: BP4

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