ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5711C>T (p.Thr1904Ile)

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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 RCV003871751 SCV004683042 likely benign not provided 2023-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542312 SCV004799907 uncertain significance MYH9-related disorder 2023-10-20 no assertion criteria provided clinical testing The MYH9 c.5711C>T variant is predicted to result in the amino acid substitution p.Thr1904Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0015% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-36680193-G-A). 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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