ClinVar Miner

Submissions for variant NM_019109.4(ALG1):c.191C>A (p.Thr64Asn)

gnomAD frequency: 0.00246  dbSNP: rs145474820
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173491 SCV000224609 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224202 SCV000281410 likely benign not provided 2016-02-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000224202 SCV000491517 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26931382)
Invitae RCV001082834 SCV000769716 likely benign ALG1-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing

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