ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)

gnomAD frequency: 0.04735  dbSNP: rs146811565
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174549 SCV000225867 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000174549 SCV000310974 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302004 SCV000416208 likely benign Holoprosencephaly 9 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.
Invitae RCV000555688 SCV000655227 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001539729 SCV001757533 benign not provided 2018-10-11 criteria provided, single submitter clinical testing

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