ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)

gnomAD frequency: 0.00232  dbSNP: rs143213152
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153829 SCV000203410 likely benign not specified 2014-11-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000153829 SCV000248700 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000487974 SCV000514395 likely benign not provided 2020-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487974 SCV000575530 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing RELN: BP4, BS2
Invitae RCV001080109 SCV000656298 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001158969 SCV001320645 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Clinical Genetics, Academic Medical Center RCV000487974 SCV001921758 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000487974 SCV001928337 likely benign not provided no assertion criteria provided clinical testing

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