ClinVar Miner

Submissions for variant NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp)

gnomAD frequency: 0.00444  dbSNP: rs61751747
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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 RCV000894259 SCV001038233 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487958 SCV002803554 benign Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 2021-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894259 SCV004130088 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MADD: BS2
PreventionGenetics, part of Exact Sciences RCV003920809 SCV004733376 benign MADD-related disorder 2019-04-03 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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