ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.744C>T (p.Asp248=)

gnomAD frequency: 0.00026  dbSNP: rs148052291
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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 RCV000909983 SCV001054824 benign Aspartylglucosaminuria 2024-01-30 criteria provided, single submitter clinical testing

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