ClinVar Miner

Submissions for variant NM_004310.5(RHOH):c.495C>T (p.Cys165=)

gnomAD frequency: 0.00003  dbSNP: rs774982598
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902919 SCV001047361 likely benign T-cell immunodeficiency with epidermodysplasia verruciformis 2023-12-28 criteria provided, single submitter clinical testing

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