ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.705A>G (p.Val235=)

gnomAD frequency: 0.00001  dbSNP: rs150175428
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495587 SCV001700269 likely benign Aspartylglucosaminuria 2020-03-24 criteria provided, single submitter clinical testing

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