ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.264+7G>A

gnomAD frequency: 0.00548  dbSNP: rs60100877
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177147 SCV000228978 likely benign not specified 2014-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000177147 SCV000308700 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000576305 SCV000403340 likely benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 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.
CeGaT Center for Human Genetics Tuebingen RCV000513109 SCV000608819 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing GRN: BP4, BS2
Athena Diagnostics RCV000576305 SCV000677378 benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 2017-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086378 SCV000772101 benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000513109 SCV001819462 likely benign not provided 2020-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000513109 SCV005212866 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000513109 SCV000801379 likely benign not provided 2017-06-07 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000513109 SCV001806997 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000177147 SCV001919084 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000513109 SCV001974821 likely benign not provided no assertion criteria provided clinical testing

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