ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.3367G>A (p.Ala1123Thr)

gnomAD frequency: 0.00006  dbSNP: rs534403874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732496 SCV001982636 benign not provided 2021-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001732496 SCV002496851 benign not provided 2022-03-01 criteria provided, single submitter clinical testing AHDC1: BS1, BS2
Genome-Nilou Lab RCV002253983 SCV002524757 benign AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001732496 SCV003300895 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing

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