ClinVar Miner

Submissions for variant NM_001009999.3(KDM1A):c.2448G>A (p.Pro816=)

gnomAD frequency: 0.00226  dbSNP: rs137940710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899151 SCV001043401 benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505298 SCV002801227 likely benign Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 2022-05-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151198 SCV003839634 benign not specified 2022-10-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003968222 SCV004790472 benign KDM1A-related disorder 2019-03-22 no assertion criteria provided 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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