ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)

gnomAD frequency: 0.00018  dbSNP: rs142480526
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000403149 SCV000453393 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825747 SCV000967206 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala67Val in exon 3 of DIAPH1: This variant is not expected to have clinical si gnificance because it has been identified in 0.64% (55/8616) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs142480526).
Invitae RCV000966695 SCV001114041 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001683397 SCV001901573 benign not provided 2018-10-19 criteria provided, single submitter clinical testing

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