ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1455G>A (p.Leu485=)

gnomAD frequency: 0.00001  dbSNP: rs375528761
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Total submissions: 3
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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 RCV000036052 SCV000059704 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Leu485Leu in Exon 13 of MYO7A: 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 1/7000 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001467280 SCV001470937 likely benign not provided 2019-11-18 criteria provided, single submitter clinical testing
Invitae RCV001467280 SCV001671304 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing

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