ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=)

gnomAD frequency: 0.00242  dbSNP: rs181527317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881524 SCV001024708 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501387 SCV002806518 likely benign Fraser syndrome 3 2021-07-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000881524 SCV005231270 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003930542 SCV004747082 benign GRIP1-related disorder 2019-07-23 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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