ClinVar Miner

Submissions for variant NM_004070.4(CLCNKA):c.777G>A (p.Glu259=)

gnomAD frequency: 0.00744  dbSNP: rs138578392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891331 SCV001035143 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000891331 SCV002006959 likely benign not provided 2020-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891331 SCV005255837 likely benign not provided criteria provided, single submitter not provided

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