ClinVar Miner

Submissions for variant NM_004310.5(RHOH):c.42T>C (p.Ala14=)

gnomAD frequency: 0.00056  dbSNP: rs114176176
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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 RCV000537125 SCV000659356 likely benign T-cell immunodeficiency with epidermodysplasia verruciformis 2023-10-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925736 SCV004746762 likely benign RHOH-related disorder 2019-02-21 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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