ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.404T>C (p.Phe135Ser)

gnomAD frequency: 0.00001  dbSNP: rs386833427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000049355 SCV002778386 likely pathogenic Aspartylglucosaminuria 2022-02-22 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049355 SCV000081787 probable-pathogenic Aspartylglucosaminuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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