ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.549A>G (p.Val183=)

gnomAD frequency: 0.00001  dbSNP: rs774279058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597230 SCV000703567 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597230 SCV002435951 likely benign not provided 2024-03-20 criteria provided, single submitter clinical testing

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