ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.795C>T (p.Arg265=)

dbSNP: rs2111008931
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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 RCV002084727 SCV002330723 likely benign Aspartylglucosaminuria 2021-02-10 criteria provided, single submitter clinical testing

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