ClinVar Miner

Submissions for variant NM_004070.4(CLCNKA):c.310G>A (p.Val104Ile)

gnomAD frequency: 0.00316  dbSNP: rs116627786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963742 SCV001110914 benign not provided 2018-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000963742 SCV002575196 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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