ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.1593C>T (p.Val531=)

dbSNP: rs3916906
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243380 SCV000315242 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001696201 SCV001915861 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778867 SCV002015999 benign Congenital contractures of the limbs and face, hypotonia, and developmental delay 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778866 SCV002016000 benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001696201 SCV002324908 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001696201 SCV005233294 benign not provided criteria provided, single submitter not provided

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