ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.165T>C (p.Ala55=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003110356 SCV003780176 likely benign Reticular dysgenesis 2022-03-28 criteria provided, single submitter clinical testing

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