ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4393G>A (p.Asp1465Asn)

gnomAD frequency: 0.00003  dbSNP: rs745382279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210567 SCV000262986 likely benign Inborn genetic diseases 2013-12-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515590 SCV003021510 likely benign Nemaline myopathy 2 2023-10-29 criteria provided, single submitter clinical testing

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