ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr)

gnomAD frequency: 0.00005  dbSNP: rs749807129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731752 SCV000859602 uncertain significance not provided 2018-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001044472 SCV001208271 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485899 SCV002790449 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-03-05 criteria provided, single submitter clinical testing

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