ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.286-4G>A

gnomAD frequency: 0.00002  dbSNP: rs782708856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000920147 SCV001065507 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970477 SCV004777121 likely benign MYO7A-related condition 2019-08-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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