ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.117C>T (p.Phe39=)

gnomAD frequency: 0.00011  dbSNP: rs764509277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907631 SCV001052347 likely benign Reticular dysgenesis 2022-12-14 criteria provided, single submitter clinical testing

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