ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.619-12C>T

gnomAD frequency: 0.15797  dbSNP: rs3744468
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000056890 SCV001727686 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000056890 SCV001950588 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000056890 SCV005246923 benign not provided criteria provided, single submitter not provided
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056890 SCV000088003 not provided not provided no assertion provided not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000056890 SCV000801093 benign not provided 2015-12-15 no assertion criteria provided clinical testing

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