ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.499-5C>T

gnomAD frequency: 0.00001  dbSNP: rs1421627521
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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 RCV001475322 SCV001679512 likely benign Reticular dysgenesis 2020-01-31 criteria provided, single submitter clinical testing

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