ClinVar Miner

Submissions for variant NM_003489.4(NRIP1):c.978T>A (p.Asn326Lys)

gnomAD frequency: 0.00393  dbSNP: rs115584205
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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 RCV000880691 SCV001023810 benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000880691 SCV005307111 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910378 SCV004724965 likely benign NRIP1-related disorder 2020-03-11 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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