ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.777-17C>A

gnomAD frequency: 0.00036  dbSNP: rs112319664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665143 SCV000789212 likely benign Primary hyperoxaluria, type I 2017-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060811 SCV002408472 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665143 SCV002795189 likely benign Primary hyperoxaluria, type I 2022-01-25 criteria provided, single submitter clinical testing

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