ClinVar Miner

Submissions for variant NM_020774.4(MIB1):c.2676C>T (p.Asn892=)

gnomAD frequency: 0.00035  dbSNP: rs77329509
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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 RCV000875540 SCV001017983 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434146 SCV002744763 likely benign Inborn genetic diseases 2019-07-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center RCV001700325 SCV001925737 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000875540 SCV001953480 likely benign not provided no assertion criteria provided clinical testing

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