ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.612C>T (p.Thr204=)

gnomAD frequency: 0.00001  dbSNP: rs1237569304
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001451670 SCV001655311 likely benign Transcobalamin II deficiency 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531544 SCV001746736 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing

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