ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.3176C>G (p.Thr1059Ser)

gnomAD frequency: 0.00001  dbSNP: rs771473441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337341 SCV000343632 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487265 SCV002786089 uncertain significance Fraser syndrome 3 2021-09-08 criteria provided, single submitter clinical testing

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