ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.883G>A (p.Asp295Asn)

gnomAD frequency: 0.03309  dbSNP: rs1126642
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000056913 SCV000842202 benign not provided 2017-09-14 criteria provided, single submitter clinical testing
Invitae RCV000056913 SCV001729188 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000056913 SCV001852236 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056913 SCV000088026 not provided not provided no assertion provided not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000056913 SCV000801087 benign not provided 2015-10-26 no assertion criteria provided clinical testing

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