ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.22G>A (p.Val8Met)

gnomAD frequency: 0.00001  dbSNP: rs774367010
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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) RCV000729976 SCV000857679 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000729976 SCV001151343 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477697 SCV002783130 uncertain significance GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2021-12-10 criteria provided, single submitter clinical testing

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