ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2322C>T (p.Ser774=)

gnomAD frequency: 0.00062  dbSNP: rs55966714
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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 RCV000222880 SCV000270108 likely benign not specified 2017-10-26 criteria provided, single submitter clinical testing p.Ser774Ser in Exon 10 of WHRN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (120/126604) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad. broadinstitute.org/; dbSNP rs55966714).
Illumina Laboratory Services, Illumina RCV000325777 SCV000476732 uncertain significance Autosomal recessive nonsyndromic hearing loss 31 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000364172 SCV000476733 uncertain significance Usher syndrome type 2D 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000973188 SCV000717811 likely benign not provided 2021-02-04 criteria provided, single submitter clinical testing
Invitae RCV000973188 SCV001120929 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000973188 SCV001475832 likely benign not provided 2020-04-14 criteria provided, single submitter clinical testing

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