ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.162C>T (p.Val54=)

gnomAD frequency: 0.00003  dbSNP: rs759704197
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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 RCV000890987 SCV001034772 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505276 SCV002807853 likely benign Fraser syndrome 3 2022-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895449 SCV004710909 likely benign GRIP1-related disorder 2021-11-17 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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