ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.3213C>T (p.Ile1071=)

gnomAD frequency: 0.00005  dbSNP: rs552133535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000334598 SCV000340867 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000334598 SCV003483634 benign not provided 2023-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543097 SCV004795754 likely benign MYH9-related disorder 2021-12-21 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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