ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2595C>T (p.Pro865=)

gnomAD frequency: 0.00124  dbSNP: rs150876010
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Total submissions: 5
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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 RCV000155222 SCV000204908 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro865Pro in Exon 25 of MYO6: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (10/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs150876010).
GeneDx RCV000844404 SCV000986455 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing
Invitae RCV000844404 SCV001018789 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160928 SCV001322767 uncertain significance Autosomal recessive nonsyndromic hearing loss 37 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001160929 SCV001322768 benign Autosomal dominant nonsyndromic hearing loss 22 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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