ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.1765-6T>G

gnomAD frequency: 0.00005  dbSNP: rs370198465
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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 RCV000876682 SCV001019286 likely benign not provided 2024-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000876682 SCV001875114 uncertain significance not provided 2023-09-20 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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