ClinVar Miner

Submissions for variant NM_000666.3(ACY1):c.1001T>C (p.Met334Thr)

gnomAD frequency: 0.00001  dbSNP: rs750876815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660453 SCV000782546 uncertain significance Aminoacylase 1 deficiency 2016-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532015 SCV003697981 uncertain significance Inborn genetic diseases 2022-04-27 criteria provided, single submitter clinical testing Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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