ClinVar Miner

Submissions for variant NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val)

gnomAD frequency: 0.00217  dbSNP: rs150975627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001806878 SCV002051501 uncertain significance not provided 2020-11-03 criteria provided, single submitter clinical testing BP4
Ambry Genetics RCV002541389 SCV003601616 likely benign Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003931343 SCV004744190 likely benign NHLRC2-related disorder 2024-09-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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