ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.622+20G>T

gnomAD frequency: 0.00007  dbSNP: rs200102826
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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 RCV002214637 SCV002361316 benign Aspartylglucosaminuria 2024-01-27 criteria provided, single submitter clinical testing

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