ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.*392A>G

gnomAD frequency: 0.00712  dbSNP: rs144527614
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001109822 SCV001267198 uncertain significance Autosomal dominant nonsyndromic hearing loss 11 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 RCV001109823 SCV001267199 likely benign Usher syndrome type 1 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001110611 SCV001268070 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 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.
GeneDx RCV001786434 SCV002028611 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001786434 SCV002821651 benign not provided 2023-05-01 criteria provided, single submitter clinical testing MYO7A: BS1, BS2

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