ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.211G>A (p.Val71Ile)

gnomAD frequency: 0.00031  dbSNP: rs143843875
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555251 SCV000630787 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001704666 SCV000715457 likely benign not provided 2021-06-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490972 SCV002798405 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-08-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000610080 SCV001926600 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001704666 SCV001971123 likely benign not provided no assertion criteria provided clinical testing

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