ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.2204G>A (p.Arg735His)

gnomAD frequency: 0.00006  dbSNP: rs193921046
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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 RCV002312983 SCV000849435 likely benign Inborn genetic diseases 2023-08-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516003 SCV003522791 benign Nance-Horan syndrome 2024-10-03 criteria provided, single submitter clinical testing
Science for Life laboratory, Karolinska Institutet RCV000149387 SCV000089029 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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