ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=)

gnomAD frequency: 0.02275  dbSNP: rs2302102
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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 RCV000038370 SCV000062042 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Gly1193Gly in Exon 27 of DIAPH1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 2.3% (160/6862) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2302102)."
PreventionGenetics, part of Exact Sciences RCV000038370 SCV000310907 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328272 SCV000453363 benign Autosomal dominant nonsyndromic hearing loss 1 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000527069 SCV000655966 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 RCV000038370 SCV000717819 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000991922 SCV001143789 benign not provided 2019-07-01 criteria provided, single submitter clinical testing

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