ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.772+1078A>G

gnomAD frequency: 0.00153  dbSNP: rs144049982
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153604 SCV000203147 likely benign not specified 2015-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001704115 SCV000241846 likely benign not provided 2021-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000467253 SCV000431212 likely benign Pitt-Hopkins-like syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000467253 SCV000562380 likely benign Pitt-Hopkins-like syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316971 SCV000850190 benign Inborn genetic diseases 2024-02-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV000467253 SCV001519733 uncertain significance Pitt-Hopkins-like syndrome 2 2019-02-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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