ClinVar Miner

Submissions for variant NM_015331.3(NCSTN):c.996+7G>A

gnomAD frequency: 0.00044  dbSNP: rs202046846
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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 RCV001512582 SCV001720027 benign not provided 2024-12-30 criteria provided, single submitter clinical testing
New York Genome Center RCV001837008 SCV002097821 uncertain significance Acne inversa, familial, 1 2021-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980501 SCV004795481 likely benign NCSTN-related disorder 2023-12-26 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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