ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His)

gnomAD frequency: 0.00514  dbSNP: rs181285619
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Total submissions: 6
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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 RCV000224269 SCV000280913 likely benign not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000224269 SCV001902120 benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000224269 SCV002350274 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253305 SCV002524781 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 RCV000224269 SCV004032572 benign not provided 2025-01-01 criteria provided, single submitter clinical testing AHDC1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000224269 SCV005257732 likely benign not provided criteria provided, single submitter not provided

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