ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.117+14C>T

gnomAD frequency: 0.05773  dbSNP: rs2074913
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038367 SCV000062039 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 117+14C>T in Intron 01 of DIAPH1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 7.3% (459/6300) of European American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs2074913).
PreventionGenetics, part of Exact Sciences RCV000038367 SCV000310903 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000038367 SCV000338564 benign not specified 2016-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290333 SCV000453394 benign Autosomal dominant nonsyndromic hearing loss 1 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001515786 SCV001723942 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001636625 SCV001852614 benign not provided 2018-07-11 criteria provided, single submitter clinical testing

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