ClinVar Miner

Submissions for variant NM_021963.4(NAP1L2):c.19C>G (p.Arg7Gly)

dbSNP: rs746738327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004039397 SCV003870988 uncertain significance not specified 2023-01-10 criteria provided, single submitter clinical testing The c.19C>G (p.R7G) alteration is located in exon 1 (coding exon 1) of the NAP1L2 gene. This alteration results from a C to G substitution at nucleotide position 19, causing the arginine (R) at amino acid position 7 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573039 SCV001798331 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573039 SCV001966244 likely benign not provided no assertion criteria provided clinical testing

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