ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=)

dbSNP: rs547570973
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617244 SCV001846587 benign not provided 2020-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001617244 SCV002407373 benign not provided 2022-11-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253906 SCV002524751 benign AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001617244 SCV005330265 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing AHDC1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003900830 SCV004714141 likely benign AHDC1-related disorder 2022-08-10 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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