ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.524+2T>A

dbSNP: rs1553648568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666434 SCV000790726 likely pathogenic Primary hyperoxaluria, type I 2017-04-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666434 SCV004192905 likely pathogenic Primary hyperoxaluria, type I 2022-05-27 criteria provided, single submitter clinical testing

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