ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.2118+9T>C

gnomAD frequency: 0.50096  dbSNP: rs661585
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253700 SCV000315244 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778869 SCV002015997 benign Congenital contractures of the limbs and face, hypotonia, and developmental delay 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778868 SCV002015998 benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058381 SCV002410942 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002058381 SCV005233289 benign not provided criteria provided, single submitter not provided

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