ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)

gnomAD frequency: 0.00217  dbSNP: rs140963173
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499931 SCV000595029 likely benign not specified 2015-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000499931 SCV000612269 likely benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000499931 SCV000701642 likely benign not specified 2016-10-17 criteria provided, single submitter clinical testing
Invitae RCV000966009 SCV001113294 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117568 SCV001275770 benign Bilateral frontoparietal polymicrogyria 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000966009 SCV001752290 likely benign not provided 2021-04-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001117568 SCV002089385 likely benign Bilateral frontoparietal polymicrogyria 2019-12-10 no assertion criteria provided clinical testing

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