ClinVar Miner

Submissions for variant NM_000265.7(NCF1):c.496A>G (p.Asn166Asp)

gnomAD frequency: 0.01786  dbSNP: rs782555266
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001700950 SCV005220387 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700950 SCV001926467 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727981 SCV001969140 benign not specified no assertion criteria provided clinical testing

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