ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.605-3C>A

gnomAD frequency: 0.00001  dbSNP: rs749913021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662157 SCV000784504 uncertain significance Cystinuria 2018-03-05 criteria provided, single submitter clinical testing
OMIM RCV000662157 SCV000026332 pathogenic Cystinuria 2005-02-01 no assertion criteria provided literature only

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