ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.124-7T>C

gnomAD frequency: 0.00005  dbSNP: rs574725428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423263 SCV001625836 likely benign Atrial fibrillation, familial, 6 2023-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908616 SCV004723397 likely benign NPPA-related disorder 2020-03-09 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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