ClinVar Miner

Submissions for variant NM_001009999.3(KDM1A):c.2403T>G (p.Ala801=)

gnomAD frequency: 0.00001  dbSNP: rs532521841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895774 SCV001039839 benign not provided 2025-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986674 SCV005606309 likely benign Inborn genetic diseases 2024-11-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003975672 SCV004788739 likely benign KDM1A-related disorder 2019-03-29 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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