Submissions for variant NM_174878.3(CLRN1):c.660C>T (p.Asp220=)

gnomAD frequency: 0.00023  dbSNP: rs148752352

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155062	SCV000204746	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Asp220Asp in Exon 03 of CLRN1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs148752352).
Illumina Laboratory Services, Illumina	RCV000382986	SCV000441711	uncertain significance	Usher syndrome type 3	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000907924	SCV001052656	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000907924	SCV001783058	likely benign	not provided	2020-03-27	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001273479	SCV001456561	likely benign	Usher syndrome type 3A	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000907924	SCV001925424	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000907924	SCV001972340	likely benign	not provided		no assertion criteria provided	clinical testing