ClinVar Miner

Submissions for variant NM_003047.5(SLC9A1):c.1273C>T (p.Arg425Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990073 SCV004806347 uncertain significance Lichtenstein-Knorr syndrome 2024-03-25 criteria provided, single submitter clinical testing

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