ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4568+12C>G

dbSNP: rs72933642
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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 RCV000036151 SCV000059803 benign not specified 2015-10-05 criteria provided, single submitter clinical testing c.4568+12C>G in intron 34 of MYO7A: This variant is not expected to have clinica l significance because it is not located within the conserved splice consensus s equence. It has been identified in 8.6% (546/6314) of Finnish European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs72933642).
Illumina Laboratory Services, Illumina RCV000403942 SCV000374377 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000314200 SCV000374378 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000371272 SCV000374379 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001519649 SCV001728543 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519649 SCV005211514 likely benign not provided criteria provided, single submitter not provided

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