ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.4933-6C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003821941 SCV004628026 likely benign not provided 2023-02-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733653 SCV005342122 uncertain significance MYH9-related disorder 2024-07-11 no assertion criteria provided clinical testing The MYH9 c.4933-6C>T variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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