ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.427+17C>T

gnomAD frequency: 0.00066  dbSNP: rs187924928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512504 SCV001719933 benign Transcobalamin II deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001664916 SCV001872776 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001664916 SCV005210301 likely benign not provided criteria provided, single submitter not provided

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