ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.720G>T (p.Thr240=)

gnomAD frequency: 0.00494  dbSNP: rs2229012
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000675413 SCV001102235 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288190 SCV001475139 benign not specified 2020-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000675413 SCV001869934 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675413 SCV002563418 benign not provided 2024-02-01 criteria provided, single submitter clinical testing GFAP: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003940278 SCV004749395 benign GFAP-related condition 2019-07-02 criteria provided, single submitter 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000675413 SCV000801090 likely benign not provided 2018-02-07 no assertion criteria provided clinical testing

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