ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.916T>C (p.Cys306Arg)

dbSNP: rs121964906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000000245 SCV004212573 likely pathogenic Aspartylglucosaminuria 2023-04-10 criteria provided, single submitter clinical testing
OMIM RCV000000245 SCV000020389 pathogenic Aspartylglucosaminuria 1991-12-15 no assertion criteria provided literature only

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