ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1558-14G>C

gnomAD frequency: 0.16646  dbSNP: rs7063765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000280548 SCV000482545 benign Dent disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001512380 SCV001719789 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001512380 SCV001892646 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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