ClinVar Miner

Submissions for variant NM_004070.4(CLCNKA):c.969-7C>G

gnomAD frequency: 0.00227  dbSNP: rs201309731
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967731 SCV001115148 benign not provided 2018-02-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000967731 SCV004227776 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000967731 SCV005093433 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing CLCNKA: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000967731 SCV005282655 benign not provided criteria provided, single submitter not provided

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