ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr)

dbSNP: rs121908485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006144 SCV000026326 pathogenic Cystinuria 2002-11-01 no assertion criteria provided literature only

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