ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.675C>T (p.Asp225=)

gnomAD frequency: 0.00130  dbSNP: rs146443487
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711798 SCV000842200 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV000711798 SCV001726669 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711798 SCV004140699 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing GFAP: BP4, BP7

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