ClinVar Miner

Submissions for variant NM_001393586.1(MYO7B):c.5373C>T (p.Pro1791=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003436151 SCV004149164 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing MYO7B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003966390 SCV004795013 likely benign MYO7B-related disorder 2019-02-21 no assertion criteria provided 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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