ClinVar Miner

Submissions for variant NM_006580.4(CLDN16):c.532T>C (p.Leu178=)

gnomAD frequency: 0.00135  dbSNP: rs143316426
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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 RCV000910258 SCV001055109 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000910258 SCV002575299 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002505331 SCV002803640 benign Primary hypomagnesemia 2021-08-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000910258 SCV005298290 benign not provided criteria provided, single submitter not provided

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