ClinVar Miner

Submissions for variant NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)

dbSNP: rs104893726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000006294 SCV003832395 uncertain significance Primary hypomagnesemia 2021-03-26 criteria provided, single submitter clinical testing
OMIM RCV000006294 SCV000026476 pathogenic Primary hypomagnesemia 1999-07-02 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV000662319 SCV000784651 likely pathogenic Nephrocalcinosis; Nephrolithiasis 2017-09-08 no assertion criteria provided literature only

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