ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.747G>A (p.Glu249=)

gnomAD frequency: 0.00037  dbSNP: rs143534990
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 RCV000472964 SCV000560604 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000472964 SCV001747628 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CLCN4: BP4, BP7, BS2

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