ClinVar Miner

Submissions for variant NM_001242882.2(NAXD):c.471C>T (p.Asp157=)

gnomAD frequency: 0.00314  dbSNP: rs149987125
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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 RCV002167619 SCV002337614 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002167619 SCV002497692 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing NAXD: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002167619 SCV005218339 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003923466 SCV004746270 likely benign NAXD-related disorder 2019-05-31 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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