ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.597G>A (p.Glu199=)

gnomAD frequency: 0.00123  dbSNP: rs150186080
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871990 SCV001013735 benign Reticular dysgenesis 2022-09-01 criteria provided, single submitter clinical testing

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