ClinVar Miner

Submissions for variant NM_001286.5(CLCN6):c.1495T>C (p.Phe499Leu)

gnomAD frequency: 0.00081  dbSNP: rs148630210
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 RCV002085652 SCV002375251 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002085652 SCV004128484 benign not provided 2022-09-01 criteria provided, single submitter clinical testing CLCN6: BS1, BS2

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