ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1164G>A (p.Ala388=)

dbSNP: rs147747593
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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 RCV000939069 SCV001084905 likely benign Transcobalamin II deficiency 2024-01-08 criteria provided, single submitter clinical testing

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