ClinVar Miner

Submissions for variant NM_130384.3(ATRIP):c.111C>T (p.Phe37=)

gnomAD frequency: 0.00763  dbSNP: rs368960700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972702 SCV001120425 benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004877691 SCV005528171 likely benign not specified 2024-08-21 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 RCV003972939 SCV004791722 benign ATRIP-related disorder 2019-02-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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