ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7086C>T (p.Thr2362=)

gnomAD frequency: 0.00300  dbSNP: rs362747
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263114 SCV000465931 likely benign Norman-Roberts syndrome 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001082330 SCV000656345 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000540528 SCV001145263 benign not provided 2019-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000540528 SCV001889413 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000540528 SCV005228439 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118167 SCV000152519 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center RCV000118167 SCV001917271 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118167 SCV001967785 benign not specified no assertion criteria provided clinical testing

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