ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.1479T>C (p.His493=)

gnomAD frequency: 0.00026  dbSNP: rs112542881
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868127 SCV001009425 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000868127 SCV001894396 benign not provided 2019-01-10 criteria provided, single submitter clinical testing

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