ClinVar Miner

Submissions for variant NM_001382347.1(MYO5A):c.2438G>A (p.Arg813His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV003988177 SCV004803210 uncertain significance Griscelli syndrome type 1 2024-03-22 criteria provided, single submitter clinical testing ACMG Criteria: PM2_P, PP3; Individual was compound heterozygous for MYO5A variants c.2438G>A and c.5034C>G

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