ClinVar Miner

Submissions for variant NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) (rs61996282)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421432 SCV000510601 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000358584 SCV000356778 likely benign Fucosidosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000358584 SCV000626485 benign Fucosidosis 2017-08-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000421432 SCV000801367 benign not provided 2017-07-12 no assertion criteria provided clinical testing

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