ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.474-4C>T

gnomAD frequency: 0.00023  dbSNP: rs74536326
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332286 SCV000469284 likely benign Polydactyly 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000382234 SCV000469285 likely benign Pallister-Hall syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000287847 SCV000469286 likely benign Greig cephalopolysyndactyly syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001705531 SCV000518303 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Invitae RCV000634039 SCV000755317 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-09-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502385 SCV002805924 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-08-16 criteria provided, single submitter clinical testing

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