ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp)

gnomAD frequency: 0.00207  dbSNP: rs200735096
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554102 SCV000655954 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157174 SCV001318721 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195316 SCV001365652 benign not specified 2019-05-02 criteria provided, single submitter clinical testing The p.Gly662Asp variant in DIAPH1 is classified as benign because it has been identified in 1.2% (214/17174) of Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx RCV001562152 SCV001784874 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001562152 SCV004011624 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DIAPH1: BP4, BS2

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