ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.*16G>A

gnomAD frequency: 0.02451  dbSNP: rs113487550
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391646 SCV000403432 likely benign Alexander disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000675410 SCV001950594 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675410 SCV005212914 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675410 SCV000801085 benign not provided 2016-12-30 no assertion criteria provided clinical testing

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