ClinVar Miner

Submissions for variant NM_022463.5(NXN):c.543C>T (p.Asn181=)

gnomAD frequency: 0.00737  dbSNP: rs113173467
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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 RCV000884099 SCV001027455 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501406 SCV002802469 likely benign Robinow syndrome, autosomal recessive 2 2022-02-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000884099 SCV005249209 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003930607 SCV004743376 benign NXN-related disorder 2019-06-03 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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