ClinVar Miner

Submissions for variant NM_001198950.3(MYO16):c.165G>A (p.Glu55=)

gnomAD frequency: 0.00098  dbSNP: rs117770145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973733 SCV001121503 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000973733 SCV005236097 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918534 SCV004731864 likely benign MYO16-related disorder 2019-04-01 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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