ClinVar Miner

Submissions for variant NM_004036.5(ADCY3):c.372C>G (p.Leu124=)

gnomAD frequency: 0.00098  dbSNP: rs77878802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003697124 SCV004462162 benign not provided 2024-08-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003984410 SCV004796571 likely benign ADCY3-related disorder 2019-09-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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