ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.423+1G>A

dbSNP: rs1553648493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674812 SCV000800212 likely pathogenic Primary hyperoxaluria, type I 2018-05-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674812 SCV004192795 pathogenic Primary hyperoxaluria, type I 2023-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000674812 SCV005651606 likely pathogenic Primary hyperoxaluria, type I 2024-02-06 criteria provided, single submitter clinical testing

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