ClinVar Miner

Submissions for variant NM_000666.3(ACY1):c.536A>G (p.Asn179Ser)

gnomAD frequency: 0.00993  dbSNP: rs887540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425697 SCV000511795 likely benign not provided 2017-01-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000425697 SCV001122854 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972568 SCV004788391 benign ACY1-related condition 2019-02-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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