ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.172del (p.Leu58fs)

dbSNP: rs2145536721
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542703 SCV001760484 pathogenic Transcobalamin II deficiency no assertion criteria provided clinical testing

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