ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=)

gnomAD frequency: 0.00172  dbSNP: rs187691546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000341770 SCV000344013 uncertain significance not provided 2016-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000341770 SCV001058566 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920155 SCV004733820 likely benign GRIP1-related disorder 2022-02-10 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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